Works matching DE "GENETIC disorder diagnosis"


Results: 2886
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    Rola technik genetycznych w diagnostyce prenatalnej.

    Published in:
    Journal of Laboratory Diagnostics / Diagnostyka Laboratoryjna, 2024, v. 60, n. 4, p. 285, doi. 10.5604/01.3001.0054.9885
    By:
    • Purwin, Sylwia;
    • Młynek, Marlena;
    • Madej-Pilarczyk, Agnieszka;
    • Zawadzka-Więch, Urszula
    Publication type:
    Article
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    The Italian Preadolescent Mental Health Project (PrISMA): rationale and methods.

    Published in:
    International Journal of Methods in Psychiatric Research, 2006, v. 15, n. 1, p. 22, doi. 10.1002/mpr.25
    By:
    • Frigerio, Alessandra;
    • Vanzin, Laura;
    • Pastore, Valentina;
    • Nobile, Maria;
    • Giorda, Roberto;
    • Marino, Cecilia;
    • Molteni, Massimo;
    • Rucci, Paola;
    • Ammaniti, Massimo;
    • Lucarelli, Loredana;
    • Lenti, Carlo;
    • Walder, Mauro;
    • Martinuzzi, Andrea;
    • Carlet, Ombretta;
    • Muratori, Filippo;
    • Milone, Annarita;
    • Zuddas, Alessandro;
    • Cavolina, Pina;
    • Nardocci, Franco;
    • Tullini, Andrea
    Publication type:
    Article
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    Maturity-onset diabetes of the young in a large Portuguese cohort.

    Published in:
    Acta Diabetologica, 2023, v. 60, n. 1, p. 83, doi. 10.1007/s00592-022-01980-2
    By:
    • Santos Monteiro, Sílvia;
    • da Silva Santos, Tiago;
    • Fonseca, Liliana;
    • Assunção, Guilherme;
    • Lopes, Ana M.;
    • Duarte, Diana B.;
    • Soares, Ana Rita;
    • Laranjeira, Francisco;
    • Ribeiro, Isaura;
    • Pinto, Eugénia;
    • Rocha, Sónia;
    • Barbosa Gouveia, Sofia;
    • Vazquez-Mosquera, María Eugenia;
    • Oliveira, Maria João;
    • Borges, Teresa;
    • Cardoso, Maria Helena
    Publication type:
    Article
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    Taking stock in Stockholm.

    Published in:
    Nature, 1994, v. 370, n. 6486, p. 178, doi. 10.1038/370178a0
    By:
    • Howlett, Rory
    Publication type:
    Article
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    The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

    Published in:
    Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcaf034
    By:
    • Coleman, Matthew;
    • Wang, Min;
    • Snell, Penny;
    • Lee, Wei Shern;
    • D'Arcy, Colleen;
    • Mignone, Cristina;
    • Pope, Kate;
    • Gillies, Greta;
    • Maixner, Wirginia;
    • Wray, Alison;
    • Harvey, A Simon;
    • Simons, Cas;
    • Leventer, Richard J;
    • Stephenson, Sarah E M;
    • Lockhart, Paul J;
    • Howell, Katherine B
    Publication type:
    Article
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    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

    Published in:
    Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae342
    By:
    • Frezatti, Rodrigo Siqueira Soares;
    • Tomaselli, Pedro José;
    • Record, Christopher J;
    • Wilson, Lindsay A;
    • Alves, Gustavo Maximiano;
    • Dominik, Natalia;
    • Efthymiou, Stephanie;
    • Patel, Krutik;
    • Vandrovcova, Jana;
    • Männikkö, Roope;
    • Pitceathly, Robert D S;
    • Sobreira, Claudia Ferreira da Rosa;
    • McFarland, Robert;
    • Taylor, Robert W;
    • Houlden, Henry;
    • Hanna, Michael G;
    • Reilly, Mary M;
    • Marques, Wilson
    Publication type:
    Article
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    Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056
    By:
    • Kooshavar, Daniz;
    • Amor, David J;
    • Boggs, Kirsten;
    • Baker, Naomi;
    • Barnett, Christopher;
    • Silva, Michelle G de;
    • Edwards, Samantha;
    • Fahey, Michael C;
    • Marum, Justine E;
    • Snell, Penny;
    • Bozaoglu, Kiymet;
    • Pope, Kate;
    • Mohammad, Shekeeb S;
    • Riney, Kate;
    • Sachdev, Rani;
    • Scheffer, Ingrid E;
    • Schenscher, Sarah;
    • Silberstein, John;
    • Smith, Nicholas;
    • Tom, Melanie
    Publication type:
    Article
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    Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.

    Published in:
    Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac197
    By:
    • Saby, Joni N.;
    • Mulcahey, Patrick J.;
    • Zavez, Alexis E.;
    • Peters, Sarika U.;
    • Standridge, Shannon M.;
    • Swanson, Lindsay C.;
    • Lieberman, David N.;
    • Olson, Heather E.;
    • Key, Alexandra P.;
    • Percy, Alan K.;
    • Neul, Jeffrey L.;
    • Nelson, Charles A.;
    • Roberts, Timothy P. L.;
    • Benke, Timothy A.;
    • Marsh, Eric D.
    Publication type:
    Article
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    ESHRE PGT Consortium good practice recommendations for the organisation of PGT.

    Published in:
    Human Reproduction Open, 2020, v. 2020, n. 3, p. 1, doi. 10.1093/hropen/hoaa021
    By:
    • Committee, ESHRE PGT Consortium Steering;
    • Carvalho, Filipa;
    • Coonen, Edith;
    • Goossens, Veerle;
    • Kokkali, Georgia;
    • Rubio, Carmen;
    • Meijer-Hoogeveen, Madelon;
    • Moutou, Céline;
    • Vermeulen, Nathalie;
    • Rycke, Martine De
    Publication type:
    Article
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    Ethical Issues in Genetic Testing

    Published in:
    Journal of Midwifery & Women's Health, 2005, v. 50, n. 3, p. 234, doi. 10.1016/j.jmwh.2004.12.016
    By:
    • Lea, Dale Halsey;
    • Williams, Janet;
    • Donahue, M. Patricia
    Publication type:
    Article
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    Genetic Testing and the Family

    Published in:
    Journal of Midwifery & Women's Health, 2005, v. 50, n. 3, p. 227, doi. 10.1016/j.jmwh.2005.02.008
    By:
    • Van Riper, Marcia
    Publication type:
    Article
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    Newborn Screening and Genetic Testing

    Published in:
    Journal of Midwifery & Women's Health, 2005, v. 50, n. 3, p. 219, doi. 10.1016/j.jmwh.2005.01.002
    By:
    • Kenner, Carole;
    • Moran, Maribeth
    Publication type:
    Article
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    A Primer on Genetic Testing

    Published in:
    Journal of Midwifery & Women's Health, 2005, v. 50, n. 3, p. 197, doi. 10.1016/j.jmwh.2005.01.001
    By:
    • Constantin, Carolyn M.;
    • Faucett, Andrew;
    • Lubin, Ira M.
    Publication type:
    Article