Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 7

Results: 35
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    Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
    By:
    • Ezell, Kimberly M.;
    • Tinker, Rory J.;
    • Furuta, Yutaka;
    • Gulsevin, Alican;
    • Bastarache, Lisa;
    • Hamid, Rizwan;
    • Cogan, Joy D.;
    • Rives, Lynette;
    • Neumann, Serena;
    • Corner, Brian;
    • Kozuria, Mary;
    • Phillips, John A.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article
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    Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63578
    By:
    • Garber, Alison;
    • Weingarten, Lisa S.;
    • Abreu, Nicolas J.;
    • Elloumi, Houda Zghal;
    • Haack, Tobias;
    • Hildebrant, Clara;
    • Martínez‐Gil, Núria;
    • Mathews, Jennifer;
    • Müller, Amelie Johanna;
    • Valenzuela Palafoll, Irene;
    • Steigerwald, Connolly;
    • Chung, Wendy K.
    Publication type:
    Article
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    SMC1A epilepsy syndrome: clinical data from a large international cohort.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63577
    By:
    • Gibellato, Elisabetta;
    • Cianci, Paola;
    • Mariani, Milena;
    • Parma, Barbara;
    • Huisman, Sylvia;
    • Śmigiel, Robert;
    • Bisgaard, Anne‐Marie;
    • Massa, Valentina;
    • Gervasini, Cristina;
    • Moretti, Alex;
    • Cattoni, Alessandro;
    • Biondi, Andrea;
    • Selicorni, Angelo
    Publication type:
    Article
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    LUMBAR syndrome–OEIS complex overlap: A case series and review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63582
    By:
    • Barrios, L.;
    • Chamlin, S.;
    • Keppler‐Noreuil, Kim M.;
    • Rialon, K. L.;
    • Austin, Paul;
    • Alhajjat, A.;
    • Bowen, D.;
    • Metry, Denise W.;
    • Siegel, D. H.
    Publication type:
    Article
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    Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63580
    By:
    • Bensaid, Souad;
    • Bendahmane, Malika;
    • Loddo, Sara;
    • Poke, Gemma;
    • Januel, Louis;
    • Nicolle, Romain;
    • Malan, Valérie;
    • Chatron, Nicolas;
    • Ottombrino, Silvia;
    • Dentici, Maria Lisa;
    • Novelli, Antonio;
    • Digilio, Maria Cristina;
    • Sanlaville, Damien
    Publication type:
    Article
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    TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63579
    By:
    • Khalaf‐Nazzal, Reham;
    • Dweikat, Imad;
    • Ubeyratna, Nishanka;
    • Fasham, James;
    • Alawneh, Maysa;
    • Leslie, Joseph;
    • Maree, Mosab;
    • Gunning, Adam;
    • Zayed, Deyala Z.;
    • Voutsina, Nikol;
    • McGavin, Lucy;
    • Sawafta, Reem;
    • Owens, Martina;
    • Baker, Wisam;
    • Turnpenny, Peter;
    • Al‐Hijawi, Fida';
    • Baple, Emma L.;
    • Crosby, Andrew H.;
    • Rawlins, Lettie E.
    Publication type:
    Article
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    De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
    By:
    • Ha, Thoa;
    • Morgan, Angela;
    • Bartos, Meghan N.;
    • Beatty, Katelyn;
    • Cogné, Benjamin;
    • Braun, Dominique;
    • Gerber, Céline B.;
    • Gaspar, Harald;
    • Kopps, Anna M.;
    • Rieubland, Claudine;
    • Hurst, Anna C. E.;
    • Amor, David J.;
    • Nizon, Mathilde;
    • Pasquier, Laurent;
    • Pfundt, Rolph;
    • Reis, André;
    • Siu, Victoria Mok;
    • Tessarech, Marine;
    • Thompson, Michelle L.;
    • Vincent, Marie
    Publication type:
    Article
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    Development of specific growth charts for children with Fanconi anemia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63554
    By:
    • Barbus, Crystal;
    • Rayannavar, Arpana;
    • Miller, Bradley S.;
    • Jenkins, Mica J.;
    • Addo, O. Yaw;
    • Rayes, Ahmad;
    • Ahrweiler, Natasha;
    • Olson, Alisha;
    • Pohlkamp, Zachary;
    • Wagner, John E.;
    • MacMillan, Margaret L.
    Publication type:
    Article
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    3q29 duplications: A cohort of 46 patients and a literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
    By:
    • Massier, Marie;
    • Doco‐Fenzy, Martine;
    • Egloff, Matthieu;
    • Le Guillou, Xavier;
    • Le Guyader, Gwenaël;
    • Redon, Sylvia;
    • Benech, Caroline;
    • Le Millier, Karine;
    • Uguen, Kevin;
    • Ropars, Juliette;
    • Sacaze, Elise;
    • Audebert‐Bellanger, Séverine;
    • Apetrei, Andreea;
    • Molin, Arnaud;
    • Gruchy, Nicolas;
    • Vincent‐Devulder, Aline;
    • Spodenkiewicz, Marta;
    • Jacquin, Clémence;
    • Loron, Gauthier;
    • Thibaud, Marie
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63278
    Publication type:
    Article
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