Found: 79

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  • Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.

    Published in:
    Vascular Medicine, 2012, v. 17, n. 5, p. 326, doi. 10.1177/1358863X12453973
    By:
    • Al-Mohaissen, Maha;
    • Allanson, Judith E;
    • O’Connor, Michael D;
    • Veinot, John P;
    • Brandys, Timothy M;
    • Maharajh, Gyaandeo;
    • Dennie, Carole J;
    • Beauchesne, Luc M
    Publication type:
    Article
  • Prolonged disorders of consciousness: A response to a "critical evaluation of the new UK guidelines.".

    Published in:
    Clinical Rehabilitation, 2022, v. 36, n. 9, p. 1267, doi. 10.1177/02692155221099704
    By:
    • Wade, Derick T;
    • Turner-Stokes, Lynne;
    • Playford, E Diane;
    • Allanson, Judith;
    • Pickard, John
    Publication type:
    Article
  • SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

    Published in:
    Neurogenetics, 2014, v. 15, n. 1, p. 23, doi. 10.1007/s10048-013-0378-5
    By:
    • Baker, Matt;
    • Strongosky, Audrey;
    • Sanchez-Contreras, Monica;
    • Yang, Shan;
    • Ferguson, Will;
    • Calne, Donald;
    • Calne, Susan;
    • Stoessl, A.;
    • Allanson, Judith;
    • Broderick, Daniel;
    • Hutton, Michael;
    • Dickson, Dennis;
    • Ross, Owen;
    • Wszolek, Zbigniew;
    • Rademakers, Rosa
    Publication type:
    Article
  • Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38
    By:
    • Racacho, Lemuel;
    • Byrnes, Ashley M;
    • MacDonald, Heather;
    • Dranse, Helen J;
    • Nikkel, Sarah M;
    • Allanson, Judith;
    • Rosser, Elisabeth;
    • Underhill, T Michael;
    • Bulman, Dennis E
    Publication type:
    Article
  • Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
    By:
    • Verloes, Alain;
    • Di Donato, Nataliya;
    • Masliah-Planchon, Julien;
    • Jongmans, Marjolijn;
    • Abdul-Raman, Omar A;
    • Albrecht, Beate;
    • Allanson, Judith;
    • Brunner, Han;
    • Bertola, Debora;
    • Chassaing, Nicolas;
    • David, Albert;
    • Devriendt, Koen;
    • Eftekhari, Pirayeh;
    • Drouin-Garraud, Valérie;
    • Faravelli, Francesca;
    • Faivre, Laurence;
    • Giuliano, Fabienne;
    • Guion Almeida, Leina;
    • Juncos, Jorge;
    • Kempers, Marlies
    Publication type:
    Article
  • Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
    By:
    • Peddibhotla, Sirisha;
    • Nagamani, Sandesh CS;
    • Erez, Ayelet;
    • Hunter, Jill V;
    • Holder Jr, J Lloyd;
    • Carlin, Mary E;
    • Bader, Patricia I;
    • Perras, Helene MF;
    • Allanson, Judith E;
    • Newman, Leslie;
    • Simpson, Gayle;
    • Immken, LaDonna;
    • Powell, Erin;
    • Mohanty, Aaron;
    • Kang, Sung-Hae L;
    • Stankiewicz, Pawel;
    • Bacino, Carlos A;
    • Bi, Weimin;
    • Patel, Ankita;
    • Cheung, Sau W
    Publication type:
    Article
  • Public views on participating in newborn screening using genome sequencing.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1248, doi. 10.1038/ejhg.2014.22
    By:
    • Bombard, Yvonne;
    • Miller, Fiona A;
    • Hayeems, Robin Z;
    • Barg, Carolyn;
    • Cressman, Celine;
    • Carroll, June C;
    • Wilson, Brenda J;
    • Little, Julian;
    • Avard, Denise;
    • Painter-Main, Michael;
    • Allanson, Judith;
    • Giguere, Yves;
    • Chakraborty, Pranesh
    Publication type:
    Article
  • Primary care role in expanded newborn screening: After the heel prick test.

    Published in:
    2013
    By:
    • Hayeems, Robin Z;
    • Miller, Fiona A;
    • Carroll, June C;
    • Little, Julian;
    • Allanson, Judith;
    • Bytautas, Jessica P;
    • Chakraborty, Pranesh;
    • Wilson, Brenda J
    Publication type:
    journal article
  • Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.

    Published in:
    2013
    By:
    • Carroll JC;
    • Rideout A;
    • Wilson BJ;
    • Allanson J;
    • Blaine S;
    • Esplen MJ;
    • Farrell S;
    • Graham GE;
    • Mackenzie J;
    • Meschino WS;
    • Prakash P;
    • Shuman C;
    • Taylor S;
    • Tobin S;
    • Carroll, June C;
    • Rideout, Andrea;
    • Wilson, Brenda J;
    • Allanson, Judith;
    • Blaine, Sean;
    • Esplen, Mary Jane
    Publication type:
    journal article
  • Genetics: factor V Leiden.

    Published in:
    2010
    By:
    • Cremin C;
    • Carroll JC;
    • Allanson J;
    • Blaine SM;
    • Dorman H;
    • Gibbons CA;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Wilson BJ;
    • Cremin, Carol;
    • Carroll, June C;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Wilson, Brenda J
    Publication type:
    journal article
  • Genetics: Factor V Leiden.

    Published in:
    Canadian Family Physician / Médecin de Famille Canadien, 2010, v. 56, n. 4, p. 353
    By:
    • Cremin, Carol;
    • Carroll, June C.;
    • Allanson, Judith;
    • Blaine, Sean M.;
    • Dorman, Heather;
    • Gibbons, Clare A.;
    • Honeywell, Christina;
    • Meschino, Wendy S.;
    • Permaul, Joanne;
    • Wilson, Brenda J.
    Publication type:
    Article
  • Genetics: Preimplantation genetic diagnosis.

    Published in:
    2010
    By:
    • Gibbons CA;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Gibbons, Clare A;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: familial melanoma.

    Published in:
    2010
    By:
    • Cremin C;
    • Blaine SM;
    • Allanson J;
    • Dorman H;
    • Gibbons CA;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Cremin, Carol;
    • Blaine, Sean M;
    • Allanson, Judith;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: schizophrenia.

    Published in:
    2009
    By:
    • Rideout AL;
    • Carroll JC;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Allanson J;
    • Rideout, Andrea L;
    • Carroll, June C;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Allanson, Judith
    Publication type:
    journal article
  • Genetic education for primary care providers: Improving attitudes, knowledge, and confidence.

    Published in:
    Canadian Family Physician / Médecin de Famille Canadien, 2009, v. 55, n. 12, p. e92
    By:
    • Carroll, June C.;
    • Rideout, Andrea L.;
    • Wilson, Brenda J.;
    • Allanson, Judith;
    • Blaine, Sean M.;
    • Esplen, Mary Jane;
    • Farrell, Sandra A.;
    • Graham, Gail E.;
    • MacKenzie, Jennifer;
    • Meschino, Wendy;
    • Miller, Fiona;
    • Prakash, Preeti;
    • Shuman, Cheryl;
    • Summers, Anne;
    • Taylor, Sherry
    Publication type:
    Article
  • Genetic education for primary care providers: improving attitudes, knowledge, and confidence.

    Published in:
    2009
    By:
    • Carroll JC;
    • Rideout AL;
    • Wilson BJ;
    • Allanson JM;
    • Blaine SM;
    • Esplen MJ;
    • Farrell SA;
    • Graham GE;
    • MacKenzie J;
    • Meschino W;
    • Miller F;
    • Prakash P;
    • Shuman C;
    • Summers A;
    • Taylor S;
    • Carroll, June C;
    • Rideout, Andrea L;
    • Wilson, Brenda J;
    • Allanson, Judith Md;
    • Blaine, Sean M
    Publication type:
    journal article
  • Genetics: Hypertrophic cardiomyopathy.

    Published in:
    2009
    By:
    • Honeywell C;
    • Meschino WS;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Permaul J;
    • Carroll JC;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: Newborn screening for sickle cell anemia.

    Published in:
    2009
    By:
    • Meschino WS;
    • Gibbons CA;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Permaul J;
    • Wilson BJ;
    • Carroll JC;
    • Meschino, Wendy S;
    • Gibbons, Clare A;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Permaul, Joanne;
    • Wilson, Brenda J;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: type 2 diabetes.

    Published in:
    2009
    By:
    • Dorman H;
    • Meschino WS;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Gibbons CA;
    • Honeywell C;
    • Permaul J;
    • Carroll JC;
    • Dorman, Heather;
    • Meschino, Wendy S;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: prostate cancer.

    Published in:
    2009
    By:
    • Blaine SM;
    • Honeywell C;
    • Allanson J;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Blaine, Sean M;
    • Honeywell, Christina;
    • Allanson, Judith;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: Alzheimer disease.

    Published in:
    2009
    By:
    • Dorman H;
    • Meschino WS;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Gibbons CA;
    • Honeywell C;
    • Permaul J;
    • Carroll JC;
    • Dorman, Heather;
    • Meschino, Wendy S;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: newborn screening for MCAD deficiency.

    Published in:
    2009
    By:
    • Carroll JC;
    • Gibbons CA;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Allanson J;
    • Carroll, June C;
    • Gibbons, Clare A;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Allanson, Judith
    Publication type:
    journal article
  • Genetics: Codeine metabolism.

    Published in:
    2009
    By:
    • Gibbons CA;
    • Blaine SM;
    • Allanson J;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Gibbons, Clare A;
    • Blaine, Sean M;
    • Allanson, Judith;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
  • Genetics: hereditary hemochromatosis.

    Published in:
    2009
    By:
    • Allanson J;
    • Honeywell C;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Grimshaw J;
    • Meschino WS;
    • Permaul J;
    • Wilson BJ;
    • Carroll JC;
    • Allanson, Judith;
    • Honeywell, Christina;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Grimshaw, Jeremy;
    • Meschino, Wendy S;
    • Permaul, Joanne
    Publication type:
    journal article
  • Hereditary breast and ovarian cancers.

    Published in:
    2008
    By:
    • Carroll JC;
    • Cremin C;
    • Allanson J;
    • Blaine SM;
    • Dorman H;
    • Gibbons CA;
    • Grimshaw J;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Wilson BJ;
    • Carroll, June C;
    • Cremin, Carol;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Grimshaw, Jeremy;
    • Honeywell, Christina;
    • Meschino, Wendy S
    Publication type:
    journal article
  • Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 5, p. 498, doi. 10.1038/ejhg.2011.188
    By:
    • Bombard, Yvonne;
    • Miller, Fiona A;
    • Hayeems, Robin Z;
    • Wilson, Brenda J;
    • Carroll, June C;
    • Paynter, Martha;
    • Little, Julian;
    • Allanson, Judith;
    • Bytautas, Jessica P;
    • Chakraborty, Pranesh
    Publication type:
    Article
  • Understanding sickle cell carrier status identified through newborn screening: a qualitative study.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 3, p. 303, doi. 10.1038/ejhg.2009.173
    By:
    • Miller, Fiona A.;
    • Paynter, Martha;
    • Hayeems, Robin Z.;
    • Little, Julian;
    • Carroll, June C.;
    • Wilson, Brenda J.;
    • Allanson, Judith;
    • Bytautas, Jessica P.;
    • Chakraborty, Pranesh
    Publication type:
    Article
  • Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
    By:
    • Neumann, Thomas E.;
    • Allanson, Judith;
    • Kavamura, Ines;
    • Kerr, Bronwyn;
    • Neri, Giovanni;
    • Noonan, Jacqueline;
    • Cordeddu, Viviana;
    • Gibson, Kate;
    • Tzschach, Andreas;
    • Krüger, Gabriele;
    • Hoeltzenbein, Maria;
    • Goecke, Timm O.;
    • Kehl, Hans Gerd;
    • Albrecht, Beate;
    • Luczak, Klaudiusz;
    • Sasiadek, Maria M;
    • Musante, Luciana;
    • Laurie, Rohan;
    • Peters, Hartmut;
    • Tartaglia, Marco
    Publication type:
    Article
  • Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

    Published in:
    Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
    By:
    • King, Lily M.;
    • Morgan, Timothy;
    • Sebald, Eiman T.;
    • Bertolotto, Cristina;
    • Wachsmann-Hogiu, Sebastian;
    • Acuna, Dora;
    • Shapiro, Sandor S.;
    • Takafuta, Toshiro;
    • Aftimos, Salim;
    • Chong Ae Kim;
    • Firth, Helen;
    • Steiner, Carlos E.;
    • Cormier-Daire, Valerie;
    • Superti-Furga, Andrea;
    • Bonafe, Luisa;
    • Graham Jr, John M.;
    • Grix, Arthur;
    • Bacino, Carlos A.;
    • Allanson, Judith;
    • Bialer, Martin G.
    Publication type:
    Article
  • Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects.

    Published in:
    Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 9, p. 1239
    By:
    • Van Allen, Margot I.;
    • Fraser, F.Clarke;
    • Dallaire, Louis;
    • Allanson, Judith;
    • McLeod, D. Ross;
    • Andermann, Eva;
    • Friedman, Jan M.
    Publication type:
    Article
  • Spectrum of outcomes following traumatic brain injury-relationship between functional impairment and health-related quality of life.

    Published in:
    Acta Neurochirurgica, 2018, v. 160, n. 1, p. 107, doi. 10.1007/s00701-017-3334-6
    By:
    • Tsyben, Anastasia;
    • Guilfoyle, Mathew;
    • Timofeev, Ivan;
    • Anwar, Fahim;
    • Allanson, Judith;
    • Outtrim, Joanne;
    • Menon, David;
    • Hutchinson, Peter;
    • Helmy, Adel
    Publication type:
    Article
  • Distributed harmonic patterns of structure-function dependence orchestrate human consciousness.

    Published in:
    Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04474-1
    By:
    • Luppi, Andrea I.;
    • Vohryzek, Jakub;
    • Kringelbach, Morten L.;
    • Mediano, Pedro A. M.;
    • Craig, Michael M.;
    • Adapa, Ram;
    • Carhart-Harris, Robin L.;
    • Roseman, Leor;
    • Pappas, Ioannis;
    • Peattie, Alexander R. D.;
    • Manktelow, Anne E.;
    • Sahakian, Barbara J.;
    • Finoia, Paola;
    • Williams, Guy B.;
    • Allanson, Judith;
    • Pickard, John D.;
    • Menon, David K.;
    • Atasoy, Selen;
    • Stamatakis, Emmanuel A.
    Publication type:
    Article
  • The complexity of the stream of consciousness.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04109-x
    By:
    • Coppola, Peter;
    • Allanson, Judith;
    • Naci, Lorina;
    • Adapa, Ram;
    • Finoia, Paola;
    • Williams, Guy B.;
    • Pickard, John D.;
    • Owen, Adrian M.;
    • Menon, David K.;
    • Stamatakis, Emmanuel A.
    Publication type:
    Article
  • Nablus syndrome: Easy to diagnose yet difficult to solve.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660
    By:
    • Allanson, Judith;
    • Smith, Amanda;
    • Forzano, Francesca;
    • Lin, Angela E.;
    • Raas‐Rothschild, Annick;
    • Howley, Heather E.;
    • Boycott, Kym M.
    Publication type:
    Article
  • Systematic Review: Family History in Risk Assessment for Common Diseases.

    Published in:
    Annals of Internal Medicine, 2009, v. 151, n. 12, p. 878, doi. 10.7326/0000605-200912150-00177
    By:
    • Wilson, Brenda J.;
    • Qureshi, Nadeem;
    • Santaguida, Pasqualina;
    • Little, Julian;
    • Carroll, June C.;
    • Allanson, Judith;
    • Raina, Parminder
    Publication type:
    Article
  • Mood, Activity Participation, and Leisure Engagement Satisfaction (MAPLES): results from a randomised controlled pilot feasibility trial for low mood in acquired brain injury.

    Published in:
    BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-03128-7
    By:
    • Kusec, Andrea;
    • Murphy, Fionnuala C.;
    • Peers, Polly V.;
    • Bennett, Ron;
    • Carmona, Estela;
    • Korbacz, Aleksandra;
    • Lawrence, Cara;
    • Cameron, Emma;
    • Bateman, Andrew;
    • Watson, Peter;
    • Allanson, Judith;
    • duToit, Pieter;
    • Manly, Tom
    Publication type:
    Article
  • Spectral Signatures of Reorganised Brain Networks in Disorders of Consciousness.

    Published in:
    PLoS Computational Biology, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pcbi.1003887
    By:
    • Chennu, Srivas;
    • Finoia, Paola;
    • Kamau, Evelyn;
    • Allanson, Judith;
    • Williams, Guy B.;
    • Monti, Martin M.;
    • Noreika, Valdas;
    • Arnatkeviciute, Aurina;
    • Canales-Johnson, Andrés;
    • Olivares, Francisco;
    • Cabezas-Soto, Daniela;
    • Menon, David K.;
    • Pickard, John D.;
    • Owen, Adrian M.;
    • Bekinschtein, Tristan A.
    Publication type:
    Article
  • THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL ABNORMALITIES.

    Published in:
    Prenatal Diagnosis, 1997, v. 17, n. 6, p. 545, doi. 10.1002/(SICI)1097-0223(199706)17:6<545::AID-PD108>3.0.CO;2-3
    By:
    • SHIMIZU, TAKASHI;
    • SALVADOR, LYNN;
    • HUGHES-BENZIE, RHIA;
    • DAWSON, LAURA;
    • NIMROD, CARL;
    • ALLANSON, JUDITH
    Publication type:
    Article
  • Unusual segregation for 11q;22q parental translocation.

    Published in:
    1993
    By:
    • Allanson, Judith E.;
    • Allanson, J E
    Publication type:
    case study
  • Expectations and values about expanded newborn screening: a public engagement study.

    Published in:
    Health Expectations, 2015, v. 18, n. 3, p. 419, doi. 10.1111/hex.12047
    By:
    • Hayeems, Robin Z.;
    • Miller, Fiona A.;
    • Bombard, Yvonne;
    • Avard, Denise;
    • Carroll, June;
    • Wilson, Brenda;
    • Little, Julian;
    • Chakraborty, Pranesh;
    • Bytautas, Jessica;
    • Giguere, Yves;
    • Allanson, Judith;
    • Axler, Renata
    Publication type:
    Article
  • Opposite effects on facial morphology due to gene dosage sensitivity.

    Published in:
    Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
    By:
    • Hammond, Peter;
    • McKee, Shane;
    • Suttie, Michael;
    • Allanson, Judith;
    • Cobben, Jan-Maarten;
    • Maas, Saskia;
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    • Smith, Ann;
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    • Hennekam, Raoul
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    eLife, 2024, p. 1, doi. 10.7554/eLife.88173
    By:
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    • Mediano, Pedro A. M.;
    • Rosas, Fernando E.;
    • Allanson, Judith;
    • Pickard, John;
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    • Williams, Guy B.;
    • Craig, Michael M.;
    • Finoia, Paola;
    • Owen, Adrian M.;
    • Naci, Lorina;
    • Menon, David K.;
    • Bor, Daniel;
    • Stamatakis, Emmanuel A.
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  • Pattern of injuries and management of adolescent trauma in a combined adult and paediatric major trauma centre in United Kingdom.

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    Trauma, 2021, v. 23, n. 1, p. 44, doi. 10.1177/1460408620921709
    By:
    • Anwar, Fahim;
    • Mee, Harry;
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    • Hamilton, Colin
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  • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
    By:
    • Nikkel, Sarah M.;
    • Dauber, Andrew;
    • De Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L.;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J. M.;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E.;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • Santos da Cunha, Bruna;
    • Delaney, Louisa A.;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    Article
  • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    2013
    By:
    • Nikkel, Sarah M;
    • Dauber, Andrew;
    • de Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J M;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • da Cunha, Bruna Santos;
    • Delaney, Louisa A;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    journal article
  • Whole-brain modelling identifies distinct but convergent paths to unconsciousness in anaesthesia and disorders of consciousness.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03330-y
    By:
    • Luppi, Andrea I.;
    • Mediano, Pedro A. M.;
    • Rosas, Fernando E.;
    • Allanson, Judith;
    • Pickard, John D.;
    • Williams, Guy B.;
    • Craig, Michael M.;
    • Finoia, Paola;
    • Peattie, Alexander R. D.;
    • Coppola, Peter;
    • Owen, Adrian M.;
    • Naci, Lorina;
    • Menon, David K.;
    • Bor, Daniel;
    • Stamatakis, Emmanuel A.
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  • Longitudinal Bedside Assessments of Brain Networks in Disorders of Consciousness: Case Reports From the Field.

    Published in:
    Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00676
    By:
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    • Allanson, Judith;
    • Roberts, Neil;
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    • Pickard, John D.;
    • Menon, David K.;
    • Chennu, Srivas
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  • Rett syndrome: A study of the face.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1563, doi. 10.1002/ajmg.a.34027
    By:
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    • Hennekam, Raoul C.M.;
    • Moog, Ute;
    • Smeets, Eric E.
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  • Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1217, doi. 10.1002/ajmg.a.33987
    By:
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    • Hagenäs, Lars;
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    • Bondeson, Marie-Louise
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  • Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.

    Published in:
    Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01189
    By:
    • Carroll, June C.;
    • Allanson, Judith;
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    • Wilson, Brenda J.;
    • Permaul, Joanne A.;
    • Telner, Deanna
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    Article