Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 3

Results: 50
    1
    2
    3
    4
    5

    CRTAP variants in early-onset osteoporosis and recurrent fractures.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 806, doi. 10.1002/ajmg.a.38065
    By:
    • Costantini, Alice;
    • Vuorimies, Ilkka;
    • Mäkitie, Riikka;
    • Mäyränpää, Mervi K.;
    • Becker, Jutta;
    • Pekkinen, Minna;
    • Valta, Helena;
    • Netzer, Christian;
    • Kämpe, Anders;
    • Taylan, Fulya;
    • Jiao, Hong;
    • Mäkitie, Outi
    Publication type:
    Article
    6
    7
    8
    9

    A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 611, doi. 10.1002/ajmg.a.38069
    By:
    • Dunn, P.;
    • Prigatano, G. P.;
    • Szelinger, S.;
    • Roth, J.;
    • Siniard, A. L.;
    • Claasen, A. M.;
    • Richholt, R. F.;
    • De Both, M.;
    • Corneveaux, J. J.;
    • Moskowitz, A. M.;
    • Balak, C.;
    • Piras, I. S.;
    • Russell, M.;
    • Courtright, A. L.;
    • Belnap, N.;
    • Rangasamy, S.;
    • Ramsey, K.;
    • Opitz, J. M.;
    • Craig, D. W.;
    • Narayanan, V.
    Publication type:
    Article
    10
    11
    12
    13
    14

    Incidence of Fragile X syndrome in Ireland.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 678, doi. 10.1002/ajmg.a.38081
    By:
    • O'Byrne, James J.;
    • Sweeney, Michael;
    • Donnelly, Deirdre E.;
    • Lambert, Deborah M.;
    • Beattie, Eleanor D.;
    • Gervin, Celine M.;
    • Barton, David E.;
    • Lynch, Sally A.
    Publication type:
    Article
    15
    16

    TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 771, doi. 10.1002/ajmg.a.38083
    By:
    • Farach, Laura S.;
    • Gibson, William T.;
    • Sparagana, Steven P.;
    • Nellist, Mark;
    • Stumpel, Connie T. R. M.;
    • Hietala, Marja;
    • Friedman, Elliott;
    • Pearson, Deborah A.;
    • Creighton, Susan P.;
    • Wagemans, Annemiek;
    • Segel, Reveel;
    • Ben‐Shalom, Efrat;
    • Au, Kit Sing;
    • Northrup, Hope
    Publication type:
    Article
    17
    18
    19

    Constitutional bone impairment in Noonan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 692, doi. 10.1002/ajmg.a.38086
    By:
    • Baldassarre, Giuseppina;
    • Mussa, Alessandro;
    • Carli, Diana;
    • Molinatto, Cristina;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
    20
    21
    22
    23
    24
    25
    26

    Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
    By:
    • Machol, Keren;
    • Jain, Mahim;
    • Almannai, Mohammed;
    • Orand, Thibault;
    • Lu, James T.;
    • Tran, Alyssa;
    • Chen, Yuqing;
    • Schlesinger, Alan;
    • Gibbs, Richard;
    • Bonafe, Luisa;
    • Campos‐Xavier, Ana Belinda;
    • Unger, Sheila;
    • Superti‐Furga, Andrea;
    • Lee, Brendan H.;
    • Campeau, Philippe M.;
    • Burrage, Lindsay C.
    Publication type:
    Article
    27

    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
    By:
    • Vilboux, Thierry;
    • Malicdan, May Christine V.;
    • Roney, Joseph C.;
    • Cullinane, Andrew R.;
    • Stephen, Joshi;
    • Yildirimli, Deniz;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Vemulapalli, Meghana;
    • Mullikin, James C.;
    • Steinbach, Peter J.;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
    28
    29

    Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 601, doi. 10.1002/ajmg.a.37991
    By:
    • Tenorio, Jair;
    • Álvarez, Ignacio;
    • Riancho‐Zarrabeitia, Leyre;
    • Martos‐Moreno, Gabriel Á.;
    • Mandrile, Giorgia;
    • de la Flor Crespo, Monserrat;
    • Sukchev, Mikhail;
    • Sherif, Mostafa;
    • Kramer, Iza;
    • Darnaude‐Ortiz, María T.;
    • Arias, Pedro;
    • Gordo, Gema;
    • Dapía, Irene;
    • Martinez‐Villanueva, Julián;
    • Gómez, Rubén;
    • Iturzaeta, José Manuel;
    • Otaify, Ghada;
    • García‐Unzueta, Mayte;
    • Rubinacci, Alessandro;
    • Riancho, José A.
    Publication type:
    Article
    30
    31
    32

    Cover Image, Volume 173A, Number 3, March 2017.

    Published in:
    2017
    By:
    • Salian, Smrithi;
    • Cho, Tae‐Joon;
    • Phadke, Shubha R.;
    • Gowrishankar, Kalpana;
    • Bhavani, Gandham SriLakshmi;
    • Shukla, Anju;
    • Jagadeesh, Sujatha;
    • Kim, Ok‐Hwa;
    • Nishimura, Gen;
    • Girisha, Katta M.
    Publication type:
    Other
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46

    Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 829, doi. 10.1002/ajmg.a.38040
    By:
    • Ranganath, Prajnya;
    • Matta, Divya;
    • Bhavani, Gandham SriLakshmi;
    • Wangnekar, Savita;
    • Jain, Jamal Mohammed Nurul;
    • Verma, Ishwar C.;
    • Kabra, Madhulika;
    • Puri, Ratna D.;
    • Danda, Sumita;
    • Gupta, Neerja;
    • Girisha, Katta M.;
    • Sankar, Vaikom H.;
    • Patil, Siddaramappa J.;
    • Devi, Akella Radha Rama;
    • Bhat, Meenakshi;
    • Gowrishankar, Kalpana;
    • Mandal, Kausik;
    • Aggarwal, Shagun;
    • Tamhankar, Parag Mohan;
    • Tilak, Preetha
    Publication type:
    Article
    47
    48
    49
    50