Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 4

Results: 11
    1
    2

    Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 4, p. 667, doi. 10.1007/s00439-020-02239-y
    By:
    • Mikhael, Sasha;
    • Dugar, Sonal;
    • Morton, Madison;
    • Chorich, Lynn P.;
    • Tam, Kerlene Berwick;
    • Lossie, Amy C.;
    • Kim, Hyung-Goo;
    • Knight, James;
    • Taylor, Hugh S.;
    • Mukherjee, Souhrid;
    • Capra, John A.;
    • Phillips III, John A.;
    • Friez, Michael;
    • Layman, Lawrence C.
    Publication type:
    Article
    3

    A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

    Published in:
    Human Genetics, 2021, v. 140, n. 4, p. 649, doi. 10.1007/s00439-020-02238-z
    By:
    • Ali, Muhammad;
    • Khan, Shahid Y.;
    • Rodrigues, Tony A.;
    • Francisco, Tânia;
    • Jiao, Xiaodong;
    • Qi, Hang;
    • Kabir, Firoz;
    • Irum, Bushra;
    • Rauf, Bushra;
    • Khan, Asma A.;
    • Mehmood, Azra;
    • Naeem, Muhammad Asif;
    • Assir, Muhammad Zaman;
    • Ali, Muhammad Hassaan;
    • Shahzad, Mohsin;
    • Abu-Amero, Khaled K.;
    • Akram, Shehla Javed;
    • Akram, Javed;
    • Riazuddin, Sheikh;
    • Riazuddin, Saima
    Publication type:
    Article
    4
    5
    6

    Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

    Published in:
    Human Genetics, 2021, v. 140, n. 4, p. 625, doi. 10.1007/s00439-020-02231-6
    By:
    • Provenzano, Aldesia;
    • La Barbera, Andrea;
    • Scagnet, Mirko;
    • Pagliazzi, Angelica;
    • Traficante, Giovanna;
    • Pantaleo, Marilena;
    • Tiberi, Lucia;
    • Vergani, Debora;
    • Kurtas, Nehir Edibe;
    • Guarducci, Silvia;
    • Bargiacchi, Sara;
    • Forzano, Giulia;
    • Artuso, Rosangela;
    • Palazzo, Viviana;
    • Kura, Ada;
    • Giordano, Flavio;
    • di Feo, Daniele;
    • Mortilla, Marzia;
    • De Filippi, Claudio;
    • Mattei, Gianluca
    Publication type:
    Article
    7
    8
    9
    10

    Towards systematic nomenclature for cell-free DNA.

    Published in:
    Human Genetics, 2021, v. 140, n. 4, p. 565, doi. 10.1007/s00439-020-02227-2
    By:
    • Bronkhorst, Abel J.;
    • Ungerer, Vida;
    • Diehl, Frank;
    • Anker, Philippe;
    • Dor, Yuval;
    • Fleischhacker, Michael;
    • Gahan, Peter B.;
    • Hui, Lisa;
    • Holdenrieder, Stefan;
    • Thierry, Alain R.
    Publication type:
    Article
    11

    Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

    Published in:
    Human Genetics, 2021, v. 140, n. 4, p. 579, doi. 10.1007/s00439-020-02226-3
    By:
    • Ahmed, Ashfaque;
    • Wang, Meng;
    • Bergant, Gaber;
    • Maroofian, Reza;
    • Zhao, Rongjuan;
    • Alfadhel, Majid;
    • Nashabat, Marwan;
    • AlRifai, Muhammad Talal;
    • Eyaid, Wafaa;
    • Alswaid, Abdulrahman;
    • Beetz, Christian;
    • Qin, Yan;
    • Zhu, Tengfei;
    • Tian, Qi;
    • Xia, Lu;
    • Wu, Huidan;
    • Shen, Lu;
    • Dong, Shanshan;
    • Yang, Xinyi;
    • Liu, Cenying
    Publication type:
    Article