Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 1

Results: 55
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    D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
    By:
    • Werner, Kelly M.;
    • Cox, Allison J.;
    • Qian, Emily;
    • Jain, Preti;
    • Ji, Weizhen;
    • Tikhonova, Irina;
    • Castaldi, Christopher;
    • Bilguvar, Kaya;
    • Knight, James;
    • Ferdinandusse, Sacha;
    • Fawaz, Rima;
    • Jiang, Yong‐Hui;
    • Gallagher, Patrick G.;
    • Bizzarro, Matthew;
    • Gruen, Jeffrey R.;
    • Bale, Allen;
    • Zhang, Hui
    Publication type:
    Article
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    GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 314, doi. 10.1002/ajmg.a.62503
    By:
    • Mathonnet, Alix;
    • Cunat, Séverine;
    • Allias, Fabienne;
    • Caillot, Sandrine;
    • Thonnon, Cyrielle;
    • Till, Marianne;
    • Attié‐Bitach, Tania;
    • Touraine, Renaud;
    • Meunier, Sandrine;
    • Cartellier, Charline;
    • Rossi, Massimiliano;
    • Attia, Jocelyne;
    • Putoux, Audrey
    Publication type:
    Article
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    Genomic analysis of "microphenotypes" in epilepsy.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 138, doi. 10.1002/ajmg.a.62505
    By:
    • Stanley, Kate;
    • Hostyk, Joseph;
    • Tran, Linh;
    • Amengual‐Gual, Marta;
    • Dugan, Patricia;
    • Clark, Justice;
    • Choi, Hyunmi;
    • Tchapyjnikov, Dmitry;
    • Perucca, Piero;
    • Fernandes, Cecilia;
    • Andrade, Danielle;
    • Devinsky, Orrin;
    • Cavalleri, Gianpiero L.;
    • Depondt, Chantal;
    • Sen, Arjune;
    • O'Brien, Terence;
    • Heinzen, Erin;
    • Loddenkemper, Tobias;
    • Goldstein, David B.;
    • Mikati, Mohamed A.
    Publication type:
    Article
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    Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 116, doi. 10.1002/ajmg.a.62501
    By:
    • Ali, Rehab;
    • Al‐Dewik, Nader;
    • Mohammed, Shayma;
    • Elfituri, Mahmud;
    • Agouba, Sahar;
    • Musa, Sara;
    • Mahmoud, Laila;
    • Almulla, Mariam;
    • El‐Akouri, Karen;
    • Mohd, Howaida;
    • Bux, Reem;
    • Almulla, Hajer;
    • Othman, Amna;
    • Al‐Mesaifri, Fatma;
    • Shahbeck, Noora;
    • Al‐Muriekhi, Mariam;
    • Khalifa, Amal;
    • Al‐Sulaiman, Reem;
    • Ben‐Omran, Tawfeg
    Publication type:
    Article
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    Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 272, doi. 10.1002/ajmg.a.62492
    By:
    • von der Lippe, Charlotte;
    • Tveten, Kristian;
    • Prescott, Trine E.;
    • Holla, Øystein L.;
    • Busk, Øyvind L.;
    • Burke, Katherine B.;
    • Sansbury, Francis H.;
    • Baptista, Júlia;
    • Fry, Andrew E.;
    • Lim, Derek;
    • Jolles, Stephen;
    • Evans, Jennifer;
    • Osio, Deborah;
    • Macmillan, Carol;
    • Bruno, Irene;
    • Faletra, Flavio;
    • Climent, Salvador;
    • Urreitzi, Roser;
    • Hoenicka, Janet;
    • Palau, Francesc
    Publication type:
    Article
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    The rate of secondary genomic findings in the Saudi population.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 83, doi. 10.1002/ajmg.a.62491
    By:
    • Aloraini, Taghrid;
    • Alsubaie, Lamia;
    • Alasker, Sarah;
    • Al Muitiri, Abdulrahman;
    • Alswaid, Abdulrahman;
    • Eyiad, Wafaa;
    • Al Mutairi, Fuad;
    • Ababneh, Farouq;
    • Alfadhel, Majid;
    • Alfares, Ahmed
    Publication type:
    Article
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    Impact of the coronavirus pandemic on mental health and health care in adults with neurofibromatosis: Patient perspectives from an online survey.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 71, doi. 10.1002/ajmg.a.62490
    By:
    • Wolters, Pamela L.;
    • Reda, Stephanie;
    • Martin, Staci;
    • Al Ghriwati, Nour;
    • Baker, Melissa;
    • Berg, Dale;
    • Erickson, Gregg;
    • Franklin, Barbara;
    • Merker, Vanessa L.;
    • Oberlander, Beverly;
    • Reeve, Stephanie;
    • Rohl, Claas;
    • Rosser, Tena;
    • Toledo‐Tamula, Mary Anne;
    • Vranceanu, Ana‐Maria
    Publication type:
    Article
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    Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross‐sectional survey in Japan.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 37, doi. 10.1002/ajmg.a.62485
    By:
    • Morishima, Ryo;
    • Kumakura, Yousuke;
    • Usami, Satoshi;
    • Kanehara, Akiko;
    • Tanaka, Miho;
    • Okochi, Noriko;
    • Nakajima, Naomi;
    • Hamada, Junko;
    • Ogawa, Tomoko;
    • Ando, Shuntaro;
    • Tamune, Hidetaka;
    • Nakahara, Mutsumi;
    • Jinde, Seiichiro;
    • Kano, Yukiko;
    • Tanaka, Kyoko;
    • Hirata, Yoichiro;
    • Oka, Akira;
    • Kasai, Kiyoto
    Publication type:
    Article
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