Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 2

Results: 56
    1

    Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 517, doi. 10.1002/ajmg.a.62021
    By:
    • Botto, Lorenzo D.;
    • Meeths, Marie;
    • Campos‐Xavier, Belinda;
    • Bergamaschi, Rosalba;
    • Mazzanti, Laura;
    • Scarano, Emanuela;
    • Finocchi, Andrea;
    • Cancrini, Caterina;
    • Zirn, Birgit;
    • Kühnle, Ingrid;
    • Kramm, Christof Maria;
    • Alanay, Yasemin;
    • Jones, Wendy D.;
    • Irving, Melita;
    • Sabir, Ataf;
    • Henter, Jan‐Inge;
    • Borgström, Birgit;
    • Nordgren, Ann;
    • Hammarsjö, Anna;
    • Putti, Caterina
    Publication type:
    Article
    2

    Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 508, doi. 10.1002/ajmg.a.62002
    By:
    • Finn, Kelsey Stuttgen;
    • Lynch, John;
    • Aufox, Sharon;
    • Bland, Sarah;
    • Chung, Wendy;
    • Halverson, Colin;
    • Hebbring, Scott;
    • Hoell, Christin;
    • Holm, Ingrid;
    • Jarvik, Gail;
    • Kullo, Iftikhar;
    • Leppig, Kathleen;
    • Myers, Melanie;
    • Prows, Cynthia;
    • Rasouly, Hila Milo;
    • Singh, Rajbir;
    • Weisner, Georgia;
    • Williams, Janet;
    • Wynn, Julia;
    • Smith, Maureen
    Publication type:
    Article
    3
    4

    Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 500, doi. 10.1002/ajmg.a.62000
    By:
    • Summerlin, Maxwell L.;
    • Regier, Debra S.;
    • Fraser, Jamie L.;
    • Chapman, Kimberly A.;
    • Kafashzadeh, Dariush;
    • Billington, Charles;
    • Kisling, Monisha;
    • Grochowsky, Angela;
    • Ah Mew, Nicholas;
    • Shur, Natasha
    Publication type:
    Article
    5

    First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999
    By:
    • Moreno‐García, Marta;
    • Arteche‐López, Ana Rosa;
    • Álvarez‐Mora, María Isabel;
    • Palma Milla, Carmen;
    • Quesada Espinosa, Juan Francisco;
    • Lezana Rosales, José Miguel;
    • Sánchez Calvín, María Teresa;
    • Gómez Manjón, Irene;
    • Gómez Rodríguez, María José;
    • Mendez‐Guerrero, Antonio;
    • Villarejo‐Galende, Alberto
    Publication type:
    Article
    6
    7
    8
    9

    Could the MED13 mutations manifest as a Kabuki‐like syndrome?

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 584, doi. 10.1002/ajmg.a.61994
    By:
    • De Nardi, Laura;
    • Faletra, Flavio;
    • D'Adamo, Adamo Pio;
    • Bianco, Anna Monica Rosaria;
    • Athanasakis, Emmanouil;
    • Bruno, Irene;
    • Barbi, Egidio
    Publication type:
    Article
    10
    11
    12
    13
    14
    15

    Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 571, doi. 10.1002/ajmg.a.61988
    By:
    • Koene, Saskia;
    • Peeters‐Scholte, Cacha M. P. C. D.;
    • Knijnenburg, Jeroen;
    • Vries, Linda S.;
    • Scheltema, Phebe N. Adama;
    • Meuwissen, Marije E.;
    • Steggerda, Sylke J.;
    • Santen, Gijs W. E.
    Publication type:
    Article
    16
    17
    18

    Clinical spectrum in multiple families with primary COQ<sub>10</sub> deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 440, doi. 10.1002/ajmg.a.61983
    By:
    • Hashemi, Seyyed S.;
    • Zare‐Abdollahi, Davood;
    • Bakhshandeh, Mohammad K.;
    • Vafaee, Amirreza;
    • Abolhasani, Sona;
    • Inanloo Rahatloo, Kolsoum;
    • DanaeeFard, Fardad;
    • Farboodi, Niloofar;
    • Rohani, Mohammad;
    • Alavi, Afagh
    Publication type:
    Article
    19
    20

    Defining dysmorphic facial features in congenital Zika syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 424, doi. 10.1002/ajmg.a.61980
    By:
    • Fonteles, Cristiane Sá Roriz;
    • Monteiro, Francisco César;
    • Bastos Vasconcelos, Rebeca;
    • Jalles Monteiro, André;
    • Maia Chaves Júnior, Cauby;
    • Franco Marçal, Felipe;
    • Asfor Rocha Carvalho Martins, Renata;
    • Pereira de Oliveira, Ana Lalessa;
    • Sá Cavalcante, Grisielle;
    • Palhano Toscano, Bianca;
    • Costa Figueiredo Lopes, Thayse Elaine;
    • Gurgel Costa, Fabio Wildson;
    • Rodrigues Ribeiro, Thyciana;
    • Verçosa, Islane Maria Castro;
    • Pessoa, André Luiz Santos;
    • Pamplona de Góes Cavalcanti, Luciano;
    • Ribeiro, Erlane Marques
    Publication type:
    Article
    21
    22
    23
    24
    25

    Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 625, doi. 10.1002/ajmg.a.61975
    By:
    • Bishnoi, Priya;
    • Ng, Yi Zhen;
    • Wei, Heming;
    • Tan, Ene‐Choo;
    • Lunny, Declan P.;
    • Wong, X. F. Colin C.;
    • Kin Fon, Leong;
    • Gondokaryono, Srie Prihianti;
    • Diana, Inne Arline;
    • Common, John E. A.;
    • Koh, Mark J. A.;
    • Lane, E. Birgitte
    Publication type:
    Article
    26
    27
    28
    29
    30
    31
    32

    A boy with Silver–Russell syndrome and Sotos syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 549, doi. 10.1002/ajmg.a.61967
    By:
    • Schwaibold, Eva M. C.;
    • Beygo, Jasmin;
    • Obeid, Katharina;
    • Jauch, Anna;
    • Hinderhofer, Katrin;
    • Moog, Ute
    Publication type:
    Article
    33
    34
    35
    36

    Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 544, doi. 10.1002/ajmg.a.61962
    By:
    • Granadillo, Jorge L.;
    • Wegner, Daniel J.;
    • Paul, Alexander J.;
    • Willing, Marcia;
    • Sisco, Kathleen;
    • Tedder, Matthew L.;
    • Sadikovic, Bekim;
    • Wambach, Jennifer A.;
    • Baldridge, Dustin;
    • Cole, Francis Sessions
    Publication type:
    Article
    37
    38
    39
    40

    Three M syndrome 2 in two Indian patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 614, doi. 10.1002/ajmg.a.61949
    By:
    • Jacob, Prince;
    • Girisha, Katta M.
    Publication type:
    Article
    41
    42
    43
    44
    45
    46

    Phenotypic features in MECP2 duplication syndrome: Effects of age.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
    By:
    • Peters, Sarika U.;
    • Fu, Cary;
    • Marsh, Eric D.;
    • Benke, Tim A.;
    • Suter, Bernard;
    • Skinner, Steve A.;
    • Lieberman, David N.;
    • Standridge, Shannon;
    • Jones, Mary;
    • Beisang, Arthur;
    • Feyma, Timothy;
    • Heydeman, Peter;
    • Ryther, Robin;
    • Glaze, Daniel G.;
    • Percy, Alan K.;
    • Neul, Jeffrey L.
    Publication type:
    Article
    47
    48
    49
    50