Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 2

Results: 34
    1
    2

    KBG Syndrome in 16 Indian Individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63907
    By:
    • Bajaj, Shruti;
    • Nampoothiri, Sheela;
    • Chugh, Roshni;
    • Sheth, Jayesh;
    • Sheth, Frenny;
    • Sheth, Harsh;
    • Narayan, Vinu;
    • Deshpande, Ameya;
    • Hegde, Anaita;
    • Dwivedi, Aradhana;
    • Yeshodharan, Dhanya;
    • Khosla, Indu;
    • Mittal, Madhukar;
    • Kore, Mahesh;
    • Ramprasad, Vedam;
    • C., Anbu Kayalvizhi;
    • Girisha, Katta M.
    Publication type:
    Article
    3

    Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63904
    By:
    • Borja, Nicholas A.;
    • Tinker, Rory J.;
    • Bivona, Stephanie A.;
    • Smith, Carson A.;
    • Locker, Theodore Krijnse;
    • Fernandes, Samuela;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article
    4
    5
    6

    A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63901
    By:
    • Frattini, Annalisa;
    • Micheloni, Giovanni;
    • Musio, Antonio;
    • Antunes, Marika Bini;
    • Barbot, José;
    • Costa, Emília;
    • Seabra, Patricia;
    • Righi, Rossana;
    • Orsini, Francesco;
    • Montalbano, Giuseppe;
    • Acquati, Francesco;
    • Porta, Giovanni;
    • Pasquali, Francesco;
    • Valli, Roberto
    Publication type:
    Article
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19

    Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63884
    By:
    • Kanai, Yu;
    • Takahashi, Hironori;
    • Hasegawa, Fuyuki;
    • Hori, Asuka;
    • Suzuki, Hisato;
    • Takahashi, Shoko;
    • Fukushima, Hiroko;
    • Takada, Hidetoshi;
    • Horie, Kenji;
    • Ozawa, Katsunori;
    • Furukawa, Rieko;
    • Kosaki, Kenjiro;
    • Hata, Kenichiro
    Publication type:
    Article
    20
    21

    Germline RTEL1 Variants in Telomere Biology Disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63882
    By:
    • Thompson, Ashley S.;
    • Niewisch, Marena R.;
    • Giri, Neelam;
    • McReynolds, Lisa J.;
    • Savage, Sharon A.
    Publication type:
    Article
    22

    Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63881
    By:
    • Hassaan, Hebatallah M;
    • Pyle, Angela;
    • Almenabawy, Nihal;
    • Robertson, Fiona M;
    • Elkhateeb, Nour;
    • Girgis, Marian Y;
    • Mahmoud, Iman Gamal El Din;
    • Amer, Fawzia;
    • Samaha, Mona;
    • Shaheen, Yara;
    • ElNaggar, Walaa;
    • Abdoh, Doaa;
    • Mehaney, Dina Ahmed;
    • Meguid, Iman Ehsan Abdel;
    • Taylor, Robert W;
    • McFarland, Robert;
    • Selim, Laila
    Publication type:
    Article
    23
    24
    25
    26

    Associated Anomalies in Radial Ray Deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63874
    By:
    • Stoll, Claude;
    • Alembik, Yves;
    • Roth, Marie‐Paule
    Publication type:
    Article
    27

    Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63870
    By:
    • van Ommeren, Babeth;
    • Hoekstra, Maud;
    • van Gassen, Koen;
    • van Jaarsveld, Richard;
    • van Haaften, Gijs;
    • Mathijssen, Irene;
    • Dammers, Ruben;
    • van Veelen, Marie‐Lise;
    • Baars, Rolanda;
    • Giltay, Jacques C.
    Publication type:
    Article
    28

    Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63880
    By:
    • Beaman, M. Makenzie;
    • Yin, Weining;
    • Smith, Amanda J.;
    • Sears, Patrick R.;
    • Leigh, Margaret W.;
    • Ferkol, Thomas W.;
    • Kearney, Brendan;
    • Olivier, Kenneth N.;
    • Kimple, Adam J.;
    • Clarke, Shannon;
    • Huggins, Erin;
    • Nading, Erica;
    • Jung, Seung‐Hye;
    • Iyengar, Apoorva K.;
    • Zou, Xue;
    • Dang, Hong;
    • Barrera, Alejandro;
    • Majoros, William H.;
    • Rehder, Catherine W.;
    • Reddy, Timothy E.
    Publication type:
    Article
    29
    30
    31
    32

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63734
    Publication type:
    Article
    33
    34