Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 6

Results: 35
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11

    EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63556
    By:
    • Forghani, Irman;
    • Lang, Steven H.;
    • Rodier, Matthew J.;
    • Bivona, Stephanie A.;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Agrawal, Pankaj B.;
    • Alejandro, Mercedes E.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article
    12

    Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63555
    By:
    • Politano, Davide;
    • D'Abrusco, Fulvio;
    • Pasca, Ludovica;
    • Ferraro, Francesca;
    • Gana, Simone;
    • Garau, Jessica;
    • Zanaboni, Martina Paola;
    • Rognone, Elisa;
    • Pichiecchio, Anna;
    • Borgatti, Renato;
    • Valente, Enza Maria;
    • De Giorgis, Valentina;
    • Romaniello, Romina
    Publication type:
    Article
    13

    A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63553
    By:
    • Siracusano, Martina;
    • Dante, Caterina;
    • Sarnataro, Rachele;
    • Arturi, Lucrezia;
    • Riccioni, Assia;
    • Carloni, Elisa;
    • Cicala, Mariagrazia;
    • Gialloreti, Leonardo Emberti;
    • Galasso, Cinzia;
    • Conteduca, Giuseppina;
    • Coviello, Domenico;
    • Mazzone, Luigi
    Publication type:
    Article
    14
    15
    16
    17
    18
    19
    20
    21

    Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63544
    By:
    • Migliavacca, Michele P.;
    • Sobreira, Joselito;
    • Bermeo, Diana;
    • Gomes, Mireille;
    • Alencar, Dayse;
    • Sussuchi, Luciane;
    • Souza, Camila Alves;
    • Silva, Juliana Santos;
    • Kroll, José Eduardo;
    • Burger, Matheus;
    • Guarischi‐Sousa, Rodrigo;
    • Villela, Darine;
    • Yamamoto, Guilherme L.;
    • Milanezi, Fernanda;
    • Horigoshi, Nelson;
    • Cesar, Regina Grigolli;
    • de Carvalho, Werther Brunow;
    • Honjo, Rachel Sayuri;
    • Bertola, Debora Romeo;
    • Kim, Chong Ae
    Publication type:
    Article
    22
    23
    24
    25

    X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63536
    By:
    • Esquiaveto‐Aun, Adriana Mangue;
    • de Mello, Maricilda Palandi;
    • Guaragna, Mara Sanches;
    • da Silva Lopes, Vera Lúcia Gil;
    • Francese‐Santos, Ana Paula;
    • dos Santos Cruz Piveta, Cristiane;
    • Mazolla, Taís Nitsh;
    • de Lemos‐Marini, Sofia Helena Valente;
    • Guerra‐Junior, Gil
    Publication type:
    Article
    26

    Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
    By:
    • Romano, Ferruccio;
    • Haanpää, Maria K.;
    • Pomianowski, Pawel;
    • Peraino, Amanda Rose;
    • Pollard, John R.;
    • Di Feo, Maria Francesca;
    • Traverso, Monica;
    • Severino, Mariasavina;
    • Derchi, Maria;
    • Henzen, Edoardo;
    • Zara, Federico;
    • Faravelli, Francesca;
    • Capra, Valeria;
    • Scala, Marcello
    Publication type:
    Article
    27

    Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63533
    By:
    • Akinci, Gulcin;
    • Alyaarubi, Saif;
    • Patni, Nivedita;
    • Alhashmi, Nadia;
    • Al‐Shidhani, Azza;
    • Prodam, Flavia;
    • Gagne, Nancy;
    • Babalola, Funmbi;
    • Al Senani, Aisha;
    • Muniraj, Kavitha;
    • Elsayed, Solaf M.;
    • Beghini, Marianna;
    • Saydam, Basak Ozgen;
    • Allawati, Moosa;
    • Vaishnav, Madhumati S.;
    • Can, Ender;
    • Simsir, Ilgin Y.;
    • Sorkina, Ekaterina;
    • Dursun, Fatma;
    • Kamrath, Clemens
    Publication type:
    Article
    28
    29
    30
    31
    32
    33

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63274
    Publication type:
    Article
    34

    Personal journeys to and in human genetics and dysmorphology.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
    By:
    • Schwartz, Charles E.;
    • Aylsworth, Arthur S.;
    • Allanson, Judith;
    • Battaglia, Agatino;
    • Carey, John C.;
    • Curry, Cynthia J.;
    • Davies, Kay E.;
    • Eichler, Evan E.;
    • Graham, John M.;
    • Hall, Bryan;
    • Hall, Judith G.;
    • Holmes, Lewis B.;
    • Hoyme, H. Eugene;
    • Hunter, Alasdair;
    • Innis, Jeffrey;
    • Johnson, John;
    • Keppler‐Noreuil, Kim M.;
    • Leroy, Jules G.;
    • Moore, Cynthia;
    • Nelson, David L.
    Publication type:
    Article
    35

    Katherine M. Hyland, PhD.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63272
    Publication type:
    Article