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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;
- Quarrell, Oliver;
- Smith, Ann;
- Lewis, Suzanne;
- Tassabehji, May;
- Sisodiya, Sanjay;
- Mattina, Teresa;
- Hennekam, Raoul
Publication type:
Article
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;
- Morrison, Shawna;
- Miller, Fiona A.;
- Wilson, Brenda J.;
- Permaul, Joanne A.;
- Telner, Deanna
Publication type:
Article
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:
- Bareham, Corinne A.;
- Allanson, Judith;
- Roberts, Neil;
- Hutchinson, Peter J. A.;
- Pickard, John D.;
- Menon, David K.;
- Chennu, Srivas
Publication type:
Article
Pattern of injuries and management of adolescent trauma in a combined adult and paediatric major trauma centre in United Kingdom.
Published in:
Trauma, 2021, v. 23, n. 1, p. 44, doi. 10.1177/1460408620921709
By:
- Anwar, Fahim;
- Mee, Harry;
- Allanson, Judith;
- Mendis, Elly;
- Hamilton, Colin
Publication type:
Article
Growth curves for height in Noonan syndrome.
Published in:
Clinical Genetics, 1986, v. 30, n. 3, p. 150, doi. 10.1111/j.1399-0004.1986.tb00587.x
By:
- Witt, David R.;
- Keena, Beth A.;
- Hall, Judith G.;
- Allanson, Judith E.
Publication type:
Article
Germinal mosaicism in Apert syndrome.
Published in:
Clinical Genetics, 1986, v. 29, n. 5, p. 429, doi. 10.1111/j.1399-0004.1986.tb00516.x
By:
- Allanson, Judith E.
Publication type:
Article
Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.
Published in:
Clinical Genetics, 1986, v. 29, n. 2, p. 133, doi. 10.1111/j.1399-0004.1986.tb01236.x
By:
- Allanson, Judith;
- Austin, William;
- Hecht, Frederick
Publication type:
Article
Familial clefting syndrome with ectropion and dental anomaly - without limb anomalies.
Published in:
Clinical Genetics, 1985, v. 27, n. 4, p. 426, doi. 10.1111/j.1399-0004.1985.tb02288.x
By:
- Allanson, Judith E.;
- C.McGillivray, Barbara
Publication type:
Article
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
Consciousness-specific dynamic interactions of brain integration and functional diversity.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12658-9
By:
- Luppi, Andrea I.;
- Craig, Michael M.;
- Pappas, Ioannis;
- Finoia, Paola;
- Williams, Guy B.;
- Allanson, Judith;
- Pickard, John D.;
- Owen, Adrian M.;
- Naci, Lorina;
- Menon, David K.;
- Stamatakis, Emmanuel A.
Publication type:
Article
Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009.
Published in:
2009
By:
- Meschino, Wendy S.;
- Farrell, Sandra A.;
- Allanson, Judith
Publication type:
Obituary
Turner syndrome in a mother and daughter: r(X) and fertility.
Published in:
Clinical Genetics, 1997, v. 52, n. 3, p. 187, doi. 10.1111/j.1399-0004.1997.tb02543.x
By:
- Blumenthal, Andrea L.;
- Allanson, Judith E.
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
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
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
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
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
Fractal dimension of cortical functional connectivity networks & severity of disorders of consciousness.
Published in:
PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0223812
By:
- Varley, Thomas F.;
- Craig, Michael;
- Adapa, Ram;
- Finoia, Paola;
- Williams, Guy;
- Allanson, Judith;
- Pickard, John;
- Menon, David K.;
- Stamatakis, Emmanuel A.
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
GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians.
Published in:
Family Practice, 2011, v. 28, n. 6, p. 615, doi. 10.1093/fampra/cmr040
By:
- Carroll, June C;
- Wilson, Brenda J;
- Allanson, Judith;
- Grimshaw, Jeremy;
- Blaine, Sean M;
- Meschino, Wendy S;
- Permaul, Joanne A;
- Graham, Ian D
Publication type:
Article
The primary care physician role in cancer genetics: a qualitative study of patient experience.
Published in:
Family Practice, 2010, v. 27, n. 5, p. 563, doi. 10.1093/fampra/cmq035
By:
- Miller, Fiona A.;
- Carroll, June C.;
- Wilson, Brenda J.;
- Bytautas, Jessica P.;
- Allanson, Judith;
- Cappelli, Mario;
- de Laat, Sonya;
- Saibil, Fred
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
A synergistic workspace for human consciousness revealed by Integrated Information Decomposition.
Published in:
eLife, 2024, p. 1, doi. 10.7554/eLife.88173
By:
- Luppi, Andrea I.;
- Mediano, Pedro A. M.;
- Rosas, Fernando E.;
- Allanson, Judith;
- Pickard, John;
- Carhart-Harris, Robin L.;
- Williams, Guy B.;
- Craig, Michael M.;
- Finoia, Paola;
- Owen, Adrian M.;
- Naci, Lorina;
- Menon, David K.;
- Bor, Daniel;
- Stamatakis, Emmanuel A.
Publication type:
Article
A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
By:
- de Mollerat, Xavier J.;
- Gurrieri, Fiorella;
- Morgan, Chad T.;
- Sangiorgi, Eugenio;
- Everman, David B.;
- Gaspari, Paola;
- Amiel, Jeanne;
- Bamshad, Michael J.;
- Lyle, Robert;
- Blouin, Jean-Louis;
- Allanson, Judith E.;
- Le Marec, Bernard;
- Wilson, Melba;
- Braverman, Nancy E.;
- Radhakrishna, Uppala;
- Delozier-Blanchet, Celia;
- Abbott, Albert;
- Elghouzzi, Vincent;
- Antonarakis, Stylianos;
- Stevenson, Roger E.
Publication type:
Article
Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 2, p. 327
By:
- Simard, Jacques;
- Rhéaume, Eric;
- Lebianc, Jean-François;
- Wallis, Simon C.;
- Joplln, Graham F.;
- Gilbey, Stephen;
- Allanson, Judith;
- Mettler, Gabrielle;
- Bettendorf, Markus;
- Heinrich, Udo;
- Labrie, Fernand
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
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

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