Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 12

Results: 29
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    Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3492, doi. 10.1002/ajmg.a.62976
    By:
    • Sy, Mary R.;
    • Chauhan, Jaynee;
    • Prescott, Katrina;
    • Imam, Aliza;
    • Kraus, Alison;
    • Beleza, Ana;
    • Salkeld, Lee;
    • Hosdurga, Saraswati;
    • Parker, Michael;
    • Vasudevan, Pradeep;
    • Islam, Lily;
    • Goel, Himanshu;
    • Bain, Nicole;
    • Park, Soo‐Mi;
    • Mohammed, Shehla;
    • Dieterich, Klaus;
    • Coutton, Charles;
    • Satre, Véronique;
    • Vieville, Gaëlle;
    • Donaldson, Alan
    Publication type:
    Article
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    Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3540, doi. 10.1002/ajmg.a.62966
    By:
    • Mazel, Benoit;
    • Mallet, Delphine;
    • Roucher‐Boulez, Florence;
    • Signor, Candace Ben;
    • Bournez, Marie;
    • Darmency, Véronique;
    • Bourgeois, Valentin;
    • Poe, Charlotte;
    • El Khabbaz, Fares;
    • Vitobello, Antonio;
    • Philippe, Christophe;
    • Duffourd, Yannis;
    • Thauvin‐Robinet, Christel;
    • Faivre, Laurence;
    • Nambot, Sophie
    Publication type:
    Article
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    TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972
    By:
    • Li, Guozhuang;
    • Strong, Alanna;
    • Wang, Haojun;
    • Kim, Ji‐Sun;
    • Watson, Deborah;
    • Zhao, Sen;
    • Vaccaro, Courtney;
    • Hartung, Erum;
    • Hakonarson, Hakon;
    • Zhang, Terry Jianguo;
    • Giampietro, Philip F.;
    • Wu, Nan
    Publication type:
    Article
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    Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3448, doi. 10.1002/ajmg.a.62962
    By:
    • DiGiovanna, John J.;
    • Randall, Grant;
    • Edelman, Alexandra;
    • Allawh, Rina;
    • Xiong, Michael;
    • Tamura, Deborah;
    • Khan, Sikandar G.;
    • Rizza, Elizabeth R. H.;
    • Reynolds, James C.;
    • Paul, Scott M.;
    • Hill, Suvimol C.;
    • Kraemer, Kenneth H.
    Publication type:
    Article
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    The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
    By:
    • Fennell, Andrew Paul;
    • Baxter, Anne Elizabeth;
    • Berkovic, Samuel Frank;
    • Ellaway, Carolyn Jane;
    • Forwood, Caitlin;
    • Hildebrand, Michael Stephen;
    • Kumble, Smitha;
    • McKeown, Colina;
    • Mowat, David;
    • Poke, Gemma;
    • Rajagopalan, Sulekha;
    • Regan, Brigid M.;
    • Scheffer, Ingrid Eileen;
    • Stark, Zornitza;
    • Stutterd, Chloe Alice;
    • Tan, Tiong Yang;
    • Wilkins, Ella Jane;
    • Yeung, Alison;
    • Hunter, Matthew Frank
    Publication type:
    Article
    17

    Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
    By:
    • Keehan, Laura;
    • Haviland, Isabel;
    • Gofin, Yoel;
    • Swanson, Lindsay C.;
    • El Achkar, Christelle Moufawad;
    • Schreiber, John;
    • VanNoy, Grace E.;
    • O'Heir, Emily;
    • O'Donnell‐Luria, Anne;
    • Lewis, Richard Alan;
    • Magoulas, Pilar;
    • Tran, Alyssa;
    • Azamian, Mahshid S.;
    • Chao, Hsiao‐Tuan;
    • Pham, Lisa;
    • Samaco, Rodney C.;
    • Elsea, Sarah;
    • Thorpe, Erin;
    • Kesari, Akanchha;
    • Perry, Denise
    Publication type:
    Article
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    Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3510, doi. 10.1002/ajmg.a.62929
    By:
    • Koene, Saskia;
    • Klerx‐Melis, Floortje;
    • Roest, Arno Anne Willem;
    • Kleijwegt, Maarten Cornelis;
    • Bootsma, Marianne;
    • Haak, Monique C.;
    • van Haeringen, Meike Heleen;
    • Ruivenkamp, Claudia Antoinette Laetitia;
    • Nibbeling, Esther Anne Rieky;
    • van Haeringen, Arie
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3387, doi. 10.1002/ajmg.a.62335
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3383, doi. 10.1002/ajmg.a.62332
    Publication type:
    Article
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