Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 10

Results: 49
    1
    2
    3
    4
    5

    Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2572, doi. 10.1002/ajmg.a.36693
    By:
    • Figueiredo, Jane C.;
    • Ly, Stephanie;
    • Raimondi, Haley;
    • Magee, Kathy;
    • Baurley, James W.;
    • Sanchez‐Lara, Pedro A.;
    • Ihenacho, Ugonna;
    • Yao, Caroline;
    • Edlund, Christopher K.;
    • van den Berg, David;
    • Casey, Graham;
    • DeClerk, Yves A.;
    • Samet, Jonathan M.;
    • Magee, William
    Publication type:
    Article
    6
    7

    Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2510, doi. 10.1002/ajmg.a.36664
    By:
    • Lessel, Davor;
    • Saha, Bidisha;
    • Hisama, Fuki;
    • Kaymakamzade, Bahar;
    • Nurlu, Gulay;
    • Gursoy‐Özdemir, Yasemin;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Martin, George M.;
    • Kubisch, Christian;
    • Oshima, Junko
    Publication type:
    Article
    8
    9
    10

    Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2649, doi. 10.1002/ajmg.a.36679
    By:
    • Watson, Christopher M.;
    • Crinnion, Laura A.;
    • Tzika, Antigoni;
    • Mills, Alison;
    • Coates, Andrea;
    • Pendlebury, Maria;
    • Hewitt, Sarah;
    • Harrison, Sally M.;
    • Daly, Catherine;
    • Roberts, Paul;
    • Carr, Ian M.;
    • Sheridan, Eamonn G.;
    • Bonthron, David T.
    Publication type:
    Article
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25

    CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
    By:
    • Wenger, Tara L.;
    • Harr, Margaret;
    • Ricciardi, Stefania;
    • Bhoj, Elizabeth;
    • Santani, Avni;
    • Adam, Margaret P.;
    • Barnett, Sarah S.;
    • Ganetzky, Rebecca;
    • McDonald‐McGinn, Donna M.;
    • Battaglia, Domenica;
    • Bigoni, Stefania;
    • Selicorni, Angelo;
    • Sorge, Giovanni;
    • Monica, Matteo Della;
    • Mari, Francesca;
    • Andreucci, Elena;
    • Romano, Silvia;
    • Cocchi, Guido;
    • Savasta, Salvatore;
    • Malbora, Baris
    Publication type:
    Article
    26
    27
    28
    29
    30
    31

    Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2567, doi. 10.1002/ajmg.a.36691
    By:
    • Butali, Azeez;
    • Mossey, Peter;
    • Adeyemo, Wasiu;
    • Eshete, Mekonen;
    • Gaines, Lauren;
    • Braimah, Ramat;
    • Aregbesola, Babatunde;
    • Rigdon, Jennifer;
    • Emeka, Christian;
    • Olutayo, James;
    • Ogunlewe, Olugbenga;
    • Ladeinde, Akinola;
    • Abate, Fikre;
    • Hailu, Taye;
    • Mohammed, Ibrahim;
    • Gravem, Paul;
    • Deribew, Milliard;
    • Gesses, Mulualem;
    • Adeyemo, Adebowale;
    • Marazita, Mary
    Publication type:
    Article
    32
    33
    34
    35
    36
    37

    An osteosclerotic form of Robinow syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2638, doi. 10.1002/ajmg.a.36677
    By:
    • Bunn, Kieran J.;
    • Lai, Angeline;
    • Al‐Ani, Azza;
    • Farella, Mauro;
    • Craw, Susan;
    • Robertson, Stephen P.
    Publication type:
    Article
    38
    39

    Copy number variation in bronchopulmonary dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2672, doi. 10.1002/ajmg.a.36659
    By:
    • Hoffmann, Thomas J.;
    • Shaw, Gary M.;
    • Stevenson, David K.;
    • Wang, Hui;
    • Quaintance, Cecele C.;
    • Oehlert, John;
    • Jelliffe‐Pawlowski, Laura L.;
    • Gould, Jeffrey B.;
    • Witte, John S.;
    • O'Brodovich, Hugh M.
    Publication type:
    Article
    40
    41
    42
    43

    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. x, doi. 10.1002/ajmg.a.36757
    Publication type:
    Article
    44
    45
    46

    Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
    By:
    • Quelin, Chloe;
    • Spaggiari, Emmanuel;
    • Khung‐Savatovsky, Suonavy;
    • Dupont, Celine;
    • Pasquier, Laurent;
    • Loeuillet, Laurence;
    • Jaillard, Sylvie;
    • Lucas, Josette;
    • Marcorelles, Pascale;
    • Journel, Hubert;
    • Pluquailec‐Bilavarn, Khantaby;
    • Bazin, Anne;
    • Verloes, Alain;
    • Delezoide, Anne‐Lise;
    • Aboura, Azzedine;
    • Guimiot, Fabien
    Publication type:
    Article
    47
    48
    49