Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 2

Results: 17
    1
    2

    Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 210, doi. 10.1111/cge.14365
    By:
    • Bonini, Katherine E.;
    • Thomas‐Wilson, Amanda;
    • Marathe, Priya N.;
    • Sebastin, Monisha;
    • Odgis, Jacqueline A.;
    • Di Biase, Miranda;
    • Kelly, Nicole R.;
    • Ramos, Michelle A.;
    • Insel, Beverly J.;
    • Scarimbolo, Laura;
    • Rehman, Atteeq U.;
    • Guha, Saurav;
    • Okur, Volkan;
    • Abhyankar, Avinash;
    • Phadke, Shruti;
    • Nava, Caroline;
    • Gallagher, Katie M.;
    • Elkhoury, Lama;
    • Edelmann, Lisa;
    • Zinberg, Randi E.
    Publication type:
    Article
    3

    POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
    By:
    • Rossi, Alessandra;
    • Blok, Lot Snijders;
    • Neuser, Sonja;
    • Klöckner, Chiara;
    • Platzer, Konrad;
    • Faivre, Laurence Olivier;
    • Weigand, Heike;
    • Dentici, Maria L.;
    • Tartaglia, Marco;
    • Niceta, Marcello;
    • Alfieri, Paolo;
    • Srivastava, Siddharth;
    • Coulter, David;
    • Smith, Lacey;
    • Vinorum, Kristin;
    • Cappuccio, Gerarda;
    • Brunetti‐Pierri, Nicola;
    • Torun, Deniz;
    • Arslan, Mutluay;
    • Lauridsen, Mathilde F.
    Publication type:
    Article
    4
    5
    6
    7

    Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 198, doi. 10.1111/cge.14361
    By:
    • Moffitt, Bridgette A.;
    • Oberman, Lindsay M.;
    • Beamer, Laura;
    • Srikanth, Sujata;
    • Jain, Lavanya;
    • Cascio, Lauren;
    • Jones, Kelly;
    • Pauly, Rini;
    • May, Melanie;
    • Skinner, Cindy;
    • Buchanan, Caroline;
    • DuPont, Barbara R.;
    • Kaufmann, Walter E.;
    • Valentine, Kathleen;
    • Ward, Linda D.;
    • Ivankovic, Diana;
    • Rogers, R. Curtis;
    • Phelan, Katy;
    • Sarasua, Sara M.;
    • Boccuto, Luigi
    Publication type:
    Article
    8
    9
    10
    11
    12

    Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338
    By:
    • Zaki, Maha S.;
    • Sharaf‐Eldin, Wessam E.;
    • Rafat, Karima;
    • Elbendary, Hasnaa M.;
    • Kamel, Mona;
    • Elkhateeb, Nour;
    • Noureldeen, Mahmoud M.;
    • Abdeltawab, Mohamed A.;
    • Sadek, Abdelrahim A.;
    • Essawi, Mona L.;
    • Lau, Tracy;
    • Murphy, David;
    • Abdel‐Hamid, Mohamed S.;
    • Holuden, Henry;
    • Issa, Mahmoud Y.;
    • Gleeson, Joseph G.
    Publication type:
    Article
    13

    Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
    By:
    • Lecca, Mauro;
    • Bedeschi, Maria Francesca;
    • Izzi, Claudia;
    • Dordoni, Chiara;
    • Rinaldi, Berardo;
    • Peluso, Francesca;
    • Caraffi, Stefano Giuseppe;
    • Prefumo, Federico;
    • Signorelli, Marino;
    • Zanzucchi, Matteo;
    • Bione, Silvia;
    • Ghigna, Claudia;
    • Sassi, Silvia;
    • Novelli, Antonio;
    • Valente, Enza Maria;
    • Superti‐Furga, Andrea;
    • Garavelli, Livia;
    • Errichiello, Edoardo
    Publication type:
    Article
    14
    15
    16
    17

    Issue Information.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 2, p. 145, doi. 10.1111/cge.14158
    Publication type:
    Article