Works matching DE "ADRENOGENITAL syndrome"


Results: 1600
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11

    FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

    Published in:
    Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae330
    By:
    • Watts, Laura M;
    • Bunyan, David J;
    • Giacopuzzi, Edoardo;
    • Walker, Susan;
    • Gazdagh, Gabriella;
    • Thomas, N Simon;
    • Straub, Volker;
    • Childs, Anne-Marie;
    • Forsyth, Joan;
    • Vogt, Julie;
    • Khan, Shagufta;
    • Willis, Tracey A;
    • Taylor, Jenny C;
    • Pagnamenta, Alistair T
    Publication type:
    Article
    12
    13

    In Memoriam: Maria Iandolo New, 1928-2024.

    Published in:
    Journal of the Endocrine Society, 2024, v. 8, n. 12, p. 1, doi. 10.1210/jendso/bvae167
    By:
    • Speiser, Phyllis W;
    • Auchus, Richard J;
    • White, Perrin C
    Publication type:
    Article
    14

    Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

    Published in:
    Journal of the Endocrine Society, 2024, v. 8, n. 10, p. 1, doi. 10.1210/jendso/bvae145
    By:
    • Tseretopoulou, Xanthippi;
    • Ali, Salma R;
    • Bryce, Jillian;
    • Amin, Nadia;
    • Atapattu, Navoda;
    • Bachega, Tania A S S;
    • Baronio, Federico;
    • Ortolano, Rita;
    • Birkebaek, Niels H;
    • Bonfig, Walter;
    • Cools, Martine;
    • Davies, Justin H;
    • Thomas, Tessy;
    • Vries, Liat de;
    • Elsedfy, Heba;
    • Amr, Nermine H;
    • Flueck, Christa E;
    • Globa, Evgenia;
    • Guran, Tulay;
    • Yavas-Abali, Zehra
    Publication type:
    Article
    15
    16

    A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

    Published in:
    Journal of the Endocrine Society, 2023, v. 7, n. 1, p. 1, doi. 10.1210/jendso/bvac165
    By:
    • Man, Elim;
    • Mushtaq, Imran;
    • Barnicoat, Angela;
    • Carmichael, Polly;
    • Hughes, Claire R;
    • Davies, Kate;
    • Aitkenhead, Helen;
    • Amin, Rakesh;
    • Buchanan, Charles R;
    • Cherian, Abraham;
    • Costa, Nikola J;
    • Creighton, Sarah M;
    • Duffy, Patrick G;
    • Hewson, Emma;
    • Hindmarsh, Peter C;
    • Monzani, Louisa C;
    • Peters, Catherine J;
    • Ransley, Philip G;
    • Smeulders, Naima;
    • Spoudeas, Helen A
    Publication type:
    Article
    17
    18

    Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

    Published in:
    Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab086
    By:
    • Buonocore, Federica;
    • Maharaj, Avinaash;
    • Qamar, Younus;
    • Koehler, Katrin;
    • Suntharalingham, Jenifer P;
    • Chan, Li F;
    • Ferraz-de-Souza, Bruno;
    • Hughes, Claire R;
    • Lin, Lin;
    • Prasad, Rathi;
    • Allgrove, Jeremy;
    • Andrews, Edward T;
    • Buchanan, Charles R;
    • Cheetham, Tim D;
    • Crowne, Elizabeth C;
    • Davies, Justin H;
    • Gregory, John W;
    • Hindmarsh, Peter C;
    • Hulse, Tony;
    • Krone, Nils P
    Publication type:
    Article
    19
    20
    21
    22
    23
    24
    25
    26
    27

    ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers.

    Published in:
    Journal of the Endocrine Society, 2019, v. 3, n. 10, p. 1837, doi. 10.1210/js.2019-00210
    By:
    • Kyo, Chika;
    • Usui, Takeshi;
    • Kosugi, Rieko;
    • Torii, Mizuki;
    • Yonemoto, Takako;
    • Ogawa, Tatsuo;
    • Kotani, Masato;
    • Tamura, Naohisa;
    • Yamamoto, Yutaro;
    • Katabami, Takuyuki;
    • Kurihara, Isao;
    • Saito, Kohei;
    • Kanamoto, Naotetsu;
    • Fukuoka, Hidenori;
    • Wada, Norio;
    • Murabe, Hiroyuki;
    • Inoue, Tatsuhide
    Publication type:
    Article
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50