Works matching IS 00034800 AND DT 2022 AND VI 86 AND IP 4

Results: 7
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    Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

    Published in:
    Annals of Human Genetics, 2022, v. 86, n. 4, p. 181, doi. 10.1111/ahg.12460
    By:
    • Yahia, Ashraf;
    • Ayed, Ikhlas Ben;
    • Hamed, Ahlam A.;
    • Mohammed, Inaam N.;
    • Elseed, Maha A.;
    • Bakhiet, Aisha M.;
    • Guillot‐Noel, Lena;
    • Abozar, Fatima;
    • Adil, Rawaa;
    • Emad, Sara;
    • Abubaker, Rayan;
    • Musallam, Mhammed Alhassan;
    • Eltazi, Isra Z. M.;
    • Omer, Zulfa;
    • Maaroof, Omer M.;
    • Soussi, Amal;
    • Bouzid, Amal;
    • Kmiha, Sana;
    • Kamoun, Hassen;
    • Salih, Mustafa A.
    Publication type:
    Article
    6

    Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH.

    Published in:
    Annals of Human Genetics, 2022, v. 86, n. 4, p. 171, doi. 10.1111/ahg.12459
    By:
    • Tisserant, Emilie;
    • Vitobello, Antonio;
    • Callegarin, Davide;
    • Verdez, Simon;
    • Bruel, Ange‐line;
    • Aho Glele, Ludwig Serge;
    • Sorlin, Arthur;
    • Viora‐Dupont, Eleonore;
    • Konyukh, Marina;
    • Marle, Nathalie;
    • Nambot, Sophie;
    • Moutton, Sébastien;
    • Racine, Caroline;
    • Garde, Aurore;
    • Delanne, Julian;
    • Tran‐Mau‐Them, Frédéric;
    • Philippe, Christophe;
    • Kuentz, Paul;
    • Poulleau, Marlène;
    • Payet, Muriel
    Publication type:
    Article
    7

    Issue Information.

    Published in:
    Annals of Human Genetics, 2022, v. 86, n. 4, p. i, doi. 10.1111/ahg.12433
    Publication type:
    Article