Works matching IS 14712350 AND DT 2015 AND VI 16 AND IP 1

Results: 126
    1
    2
    3
    4
    5

    NPHS2 mutations account for only 15 % of nephrotic syndrome cases.

    Published in:
    BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0231-9
    By:
    • Sanches Guaragna, Mara;
    • Lutaif, Anna Cristina G. B.;
    • Piveta, Cristiane S. C.;
    • Souza, Marcela L.;
    • de Souza, Suéllen R.;
    • Henriques, Taciane B.;
    • Maciel-Guerra, Andréa T.;
    • Belangero, Vera M. S.;
    • Guerra-Junior, Gil;
    • De Mello, Maricilda P.
    Publication type:
    Article
    6
    7
    8
    9
    10
    11
    12
    13

    Spinal ependymoma in a patient with Kabuki syndrome: a case report.

    Published in:
    2015
    By:
    • Roma, Davide;
    • Palma, Paolo;
    • Capolino, Rossella;
    • Figà-Talamanca, Lorenzo;
    • Diomedi-Camassei, Francesca;
    • Lepri, Francesca Romana;
    • Digilio, Maria Cristina;
    • Marras, Carlo Efisio;
    • Messina, Raffaella;
    • Carai, Andrea;
    • Randi, Franco;
    • Mastronuzzi, Angela
    Publication type:
    Case Study
    14
    15
    16

    Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

    Published in:
    2015
    By:
    • Masliah-Planchon, Julien;
    • Dupont, Céline;
    • Vartzelis, George;
    • Trimouille, Aurélien;
    • Eymard-Pierre, Eléonore;
    • Gay-Bellile, Mathilde;
    • Renaldo, Florence;
    • Dorboz, Imen;
    • Pagan, Cécile;
    • Quentin, Samuel;
    • Elmaleh, Monique;
    • Kotsogianni, Christina;
    • Konstantelou, Elissavet;
    • Drunat, Séverine;
    • Tabet, Anne-Claude;
    • Boespflug-Tanguy, Odile
    Publication type:
    Case Study
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50