Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 2

Results: 45
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    A new case of Turnpenny‐Fry syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 688, doi. 10.1002/ajmg.a.62560
    By:
    • Ercoskun, Pelin;
    • Yuce Kahraman, Cigdem;
    • Adanur Saglam, Kübra;
    • Kanjee, Momen;
    • Tatar, Abdulgani
    Publication type:
    Article
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    Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 414, doi. 10.1002/ajmg.a.62588
    By:
    • Leoni, Chiara;
    • Viscogliosi, Germana;
    • Onesimo, Roberta;
    • Bisanti, Cristian;
    • Massese, Miriam;
    • Giorgio, Valentina;
    • Corbo, Fabio;
    • Tedesco, Marta;
    • Acampora, Anna;
    • Cipolla, Clelia;
    • Dell'Atti, Claudia;
    • Flex, Elisabetta;
    • Gervasoni, Jacopo;
    • Primiano, Aniello;
    • Rigante, Donato;
    • Tartaglia, Marco;
    • Zampino, Giuseppe
    Publication type:
    Article
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    First case report of Penttinen syndrome from India.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 683, doi. 10.1002/ajmg.a.62558
    By:
    • Aggarwal, Bhawana;
    • Correa, Alec R. E.;
    • Gupta, Neerja;
    • Jana, Manisha;
    • Kabra, Madhulika
    Publication type:
    Article
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    Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 569, doi. 10.1002/ajmg.a.62556
    By:
    • von Scheibler, Emma N. M. M.;
    • van der Valk Bouman, Emy S.;
    • Nuijts, Myrthe A.;
    • Bauer, Noël J. C.;
    • Berendschot, Tos T. J. M.;
    • Vermeltfoort, Pit;
    • Bok, Levinus A.;
    • van Eeghen, Agnies M.;
    • Houben, Michiel L.;
    • van Amelsvoort, Thérèse A. M. J.;
    • Boot, Erik;
    • van Egmond‐Ebbeling, Michelle B.
    Publication type:
    Article
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    Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 522, doi. 10.1002/ajmg.a.62548
    By:
    • De Maria, Beatrice;
    • Balestrini, Simona;
    • Mei, Davide;
    • Melani, Federico;
    • Pellacani, Simona;
    • Pisano, Tiziana;
    • Rosati, Anna;
    • Scaturro, Giusi M.;
    • Giordano, Lucio;
    • Cantalupo, Gaetano;
    • Fontana, Elena;
    • Zammarchi, Cristina;
    • Said, Edith;
    • Leuzzi, Vincenzo;
    • Mastrangelo, Mario;
    • Galosi, Serena;
    • Parrini, Elena;
    • Guerrini, Renzo
    Publication type:
    Article
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    Variable clinical severity in TANGO2 deficiency: Case series and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 473, doi. 10.1002/ajmg.a.62543
    By:
    • Schymick, Jennifer;
    • Leahy, Peter;
    • Cowan, Tina;
    • Ruzhnikov, Maura R. Z.;
    • Gates, Ryan;
    • Fernandez, Liliana;
    • Pramanik, Gopal;
    • Yarlagadda, Vamsi;
    • Wheeler, Matthew;
    • Bernstein, Jonathan A.;
    • Enns, Gregory M.;
    • Lee, Chung
    Publication type:
    Article
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    A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 498, doi. 10.1002/ajmg.a.62545
    By:
    • Khan, Kamal;
    • Mehmood, Sarmad;
    • Liu, Chunyu;
    • Siddiqui, Maimoona;
    • Ahmad, Arsalan;
    • Faiz, Belqees Yawar;
    • Chioza, Barry A.;
    • Baple, Emma A.;
    • Ullah, Muhammad I.;
    • Akram, Zaineb;
    • Satti, Humayoon S.;
    • Khan, Raees;
    • Harlalka, Gaurav V.;
    • Jameel, Muhammad;
    • Akram, Talia;
    • Baig, Shahid M.;
    • Crosby, Andrew H.;
    • Hassan, Muhammad J.;
    • Zhang, Feng;
    • Davis, Erica E.
    Publication type:
    Article
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    A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 463, doi. 10.1002/ajmg.a.62537
    By:
    • Strong, Alanna;
    • March, Michael E.;
    • Cardinale, Christopher J.;
    • Kim, Sophia E.;
    • Merves, Jamie;
    • Whitworth, Hilary;
    • Raffini, Leslie;
    • Larosa, Christopher;
    • Copelovitch, Lawrence;
    • Hou, Cuiping;
    • Slater, Diana;
    • Vaccaro, Courtney;
    • Watson, Deborah;
    • Zackai, Elaine H.;
    • Billheimer, Jeffrey;
    • Hakonarson, Hakon
    Publication type:
    Article
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    Vanishing basal ganglia in ATP1A3‐related polymicrogyria.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 665, doi. 10.1002/ajmg.a.62531
    By:
    • Ogawa, Eri;
    • Sakaguchi, Yuri;
    • Enokizono, Mikako;
    • Yoshihashi, Hiroshi;
    • Yamada, Mamiko;
    • Suzuki, Hisato;
    • Kosaki, Kenjiro;
    • Miyama, Sahoko;
    • Takenouchi, Toshiki
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 395, doi. 10.1002/ajmg.a.62275
    Publication type:
    Article
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    Publication schedule for 2022.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 391, doi. 10.1002/ajmg.a.62272
    Publication type:
    Article
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