Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 11

Results: 35
    1
    2
    3
    4

    Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810
    By:
    • Draaisma, Fieke;
    • Leenders, Erika K. S. M.;
    • Erasmus, Corrie E.;
    • Braakman, Hilde M. H.;
    • Burgers, Melanie C. J.;
    • Coppens, Catelijne H.;
    • Rinne, Tuula;
    • Zenker, Martin;
    • Tartaglia, Marco;
    • Reintjes, Wesley;
    • Voermans, Nicol C.;
    • van Engelen, Baziel G. M.;
    • van Alfen, Nens;
    • Draaisma, Jos M. T.
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11
    12

    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63802
    By:
    • Mazzonetto, Patricia C.;
    • Villela, Darine;
    • Krepischi, Ana C. V.;
    • Pierry, Paulo M.;
    • Bonaldi, Adriano;
    • Almeida, Luiz Gustavo D.;
    • Paula, Marcelo G.;
    • Bürger, Matheus Carvalho;
    • de Oliveira, Ana Gabriela;
    • Fonseca, Gustavo G. G.;
    • Giugliani, Roberto;
    • Riegel‐Giugliani, Mariluce;
    • Bertola, Débora;
    • Yamamoto, Guilherme Lopes;
    • Passos‐Bueno, Maria Rita;
    • Campos, Gabriele da Silva;
    • Machado, Ana Claudia Dantas;
    • Mazzeu, Juliana F.;
    • Perrone, Eduardo;
    • Zechi‐Ceide, Roseli M.
    Publication type:
    Article
    13
    14
    15
    16

    Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
    By:
    • McNamee, Lucy;
    • Schoch, Kelly;
    • Huang, Alden;
    • Lee, Hane;
    • Wang, Lee‐kai;
    • Smith, Edward C.;
    • Lark, Robert K.;
    • Buckley, Anne F.;
    • Jobanputra, Vaidehi;
    • Nelson, Stanley F.;
    • Shashi, Vandana;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allenspach, Eric;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley
    Publication type:
    Article
    17

    Molecular autopsy in Chinese sudden cardiac death in the young.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63797
    By:
    • Kwok, Sit‐Yee;
    • Ho, Stephanie;
    • Shih, Fong‐Ying;
    • Yeung, Pak‐Kwan;
    • Cheng, Shirley S. W.;
    • Poon, Wai‐Ming;
    • Lo, Ivan F. M.;
    • Luk, Ho‐Ming
    Publication type:
    Article
    18
    19

    Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63795
    By:
    • Lildballe, Dorte L.;
    • Markholt, Sara;
    • Lyngholm, Christina Daugaard;
    • Hao, Qin;
    • Fagerberg, Christina;
    • Nielsen, Dorte Guldbrand;
    • Svensmark, Julius Hannibal;
    • Diness, Birgitte Rode;
    • Gregersen, Pernille A.
    Publication type:
    Article
    20
    21
    22
    23

    The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63791
    By:
    • Postma, Julianne K.;
    • Harrison, Mary‐Ann;
    • Kutcher, Stephen;
    • Webster, Richard J.;
    • Cloutier, Mireille;
    • Bourque, Danielle K.;
    • Yu, Andrea C.;
    • Carter, Melissa T.
    Publication type:
    Article
    24
    25
    26
    27
    28
    29

    Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63713
    By:
    • Peduto, Cristina;
    • Cappuccio, Gerarda;
    • Zeuli, Roberta;
    • Zanobio, Mariateresa;
    • Torella, Annalaura;
    • Alkuraya, Fowzan S.;
    • Joss, Shelagh;
    • Daolio, Cecilia;
    • Spinelli, Alessandro Mauro;
    • Zampieri, Stefania;
    • Nigro, Vincenzo;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
    30
    31

    Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63596
    By:
    • Bard, Angela M.;
    • Clark, Lindsay V.;
    • Cosgun, Erdal;
    • Aldinger, Kimberly A.;
    • Timms, Andrew;
    • Quina, Lely A.;
    • Ferres, Juan M. Lavista;
    • Jardine, David;
    • Haas, Elisabeth A.;
    • Becker, Tatiana M.;
    • Pagan, Chelsea M.;
    • Santani, Avni;
    • Martinez, Diego;
    • Barua, Soumitra;
    • McNutt, Zakkary;
    • Nesbitt, Addie;
    • Mitchell, Edwin A.;
    • Ramirez, Jan‐Marino
    Publication type:
    Article
    32
    33

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63294
    Publication type:
    Article
    34
    35