Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 4

Results: 46
    1
    2
    3

    Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 908, doi. 10.1002/ajmg.a.37496
    By:
    • Watanabe, Satoshi;
    • Shimizu, Kenji;
    • Ohashi, Hirofumi;
    • Kosaki, Rika;
    • Okamoto, Nobuhiko;
    • Shimojima, Keiko;
    • Yamamoto, Toshiyuki;
    • Chinen, Yasutsugu;
    • Mizuno, Seiji;
    • Dowa, Yuri;
    • Shiomi, Natsuko;
    • Toda, Yoshihiro;
    • Tashiro, Katsuya;
    • Shichijo, Koichi;
    • Minatozaki, Kazunori;
    • Aso, Seijiro;
    • Minagawa, Kyoko;
    • Hiraki, Yoko;
    • Shimokawa, Osamu;
    • Matsumoto, Tadashi
    Publication type:
    Article
    4

    Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 942, doi. 10.1002/ajmg.a.37498
    By:
    • Sari, Erkan;
    • Bereket, Abdullah;
    • Yeşilkaya, Ediz;
    • Baş, Firdevs;
    • Bundak, Rüveyde;
    • Aydın, Banu Küçükemre;
    • Darcan, Şükran;
    • Dündar, Bumin;
    • Büyükinan, Muammer;
    • Kara, Cengiz;
    • Adal, Erdal;
    • Akıncı, Ayşehan;
    • Atabek, Mehmet Emre;
    • Demirel, Fatma;
    • Çelik, Nurullah;
    • Özkan, Behzat;
    • Özhan, Bayram;
    • Orbak, Zerrin;
    • Ersoy, Betül;
    • Doğan, Murat
    Publication type:
    Article
    5
    6

    Cover Image, Volume 170A, Number 4, April 2016.

    Published in:
    2016
    By:
    • Scheps, Karen G.;
    • Francipane, Liliana;
    • Nevado, Julián;
    • Basack, Nora;
    • Attie, Myriam;
    • Bergonzi, María Fernanda;
    • Cerrone, Gloria E.;
    • Lapunzina, Pablo;
    • Varela, Viviana
    Publication type:
    Other
    7

    FTO variant associated with malformation syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1023, doi. 10.1002/ajmg.a.37515
    By:
    • Rohena, Luis;
    • Lawson, Michelle;
    • Guzman, Edwin;
    • Ganapathi, Mythily;
    • Cho, Megan T.;
    • Haverfield, Eden;
    • Anyane‐Yeboa, Kwame
    Publication type:
    Article
    8
    9
    10
    11

    Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 967, doi. 10.1002/ajmg.a.37519
    By:
    • Grams, Sarah E.;
    • Argiropoulos, Bob;
    • Lines, Matthew;
    • Chakraborty, Pranesh;
    • Mcgowan‐Jordan, Jean;
    • Geraghty, Michael T.;
    • Tsang, Marilyn;
    • Eswara, Marthand;
    • Tezcan, Kamer;
    • Adams, Kelly L.;
    • Linck, Leesa;
    • Himes, Patricia;
    • Kostiner, Dana;
    • Zand, Dina J.;
    • Stalker, Heather;
    • Driscoll, Daniel J.;
    • Huang, Taosheng;
    • Rosenfeld, Jill A.;
    • Li, Xu;
    • Chen, Emily
    Publication type:
    Article
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21

    Evaluation of proton-coupled folate transporter ( SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1007, doi. 10.1002/ajmg.a.37539
    By:
    • VanderMeer, Julia E.;
    • Carter, Tonia C.;
    • Pangilinan, Faith;
    • Mitchell, Adam;
    • Kurnat‐Thoma, Emma;
    • Kirke, Peadar N.;
    • Troendle, James F.;
    • Molloy, Anne M.;
    • Munger, Ronald G.;
    • Feldkamp, Marcia L.;
    • Mansilla, Maria A.;
    • Mills, James L.;
    • Murray, Jeff C.;
    • Brody, Lawrence C.
    Publication type:
    Article
    22
    23

    Publication schedule for 2016.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 820, doi. 10.1002/ajmg.a.37310
    Publication type:
    Article
    24
    25
    26

    Family perspectives about Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 930, doi. 10.1002/ajmg.a.37520
    By:
    • Skotko, Brian G.;
    • Levine, Susan P.;
    • Macklin, Eric A.;
    • Goldstein, Richard D.
    Publication type:
    Article
    27
    28

    Trisomy 4 mosaicism: Delineation of the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1040, doi. 10.1002/ajmg.a.37522
    By:
    • Bouman, Arjan;
    • van der Kevie‐Kersemaekers, Anne‐Marie;
    • Huijsdens‐van Amsterdam, Karin;
    • Dahhan, Nordin;
    • Knegt, Lia;
    • Vansenne, Fleur;
    • Cobben, Jan Maarten
    Publication type:
    Article
    29
    30
    31
    32
    33
    34

    Muenke syndrome: An international multicenter natural history study.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 918, doi. 10.1002/ajmg.a.37528
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • Yarnell, Colin M. P.;
    • Hadley, Donald W.;
    • Guillen Sacoto, Maria J.;
    • Platte, Petra;
    • Paelecke, Yvonne;
    • Collmann, Hartmut;
    • Snow, Nicole;
    • Schweitzer, Tilmann;
    • Boyadjiev, Simeon A.;
    • Aravidis, Christos;
    • Hall, Samantha E.;
    • Mulliken, John B.;
    • Roscioli, Tony;
    • Muenke, Maximilian
    Publication type:
    Article
    35
    36
    37
    38

    12th International CHARGE syndrome conference proceedings.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 856, doi. 10.1002/ajmg.a.37544
    By:
    • Martin, Donna M.;
    • Salem‐Hartshorne, Nancy;
    • Hartshorne, Timothy S.;
    • Scacheri, Peter C.;
    • Hefner, Margaret A.
    Publication type:
    Article
    39
    40

    Response: 'Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy' and 'is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?'.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1101, doi. 10.1002/ajmg.a.37546
    By:
    • White, Klane K.;
    • Savarirayan, Ravi;
    • Goldberg, Michael J.;
    • MacKenzie, William;
    • Bompadre, Viviana;
    • Bober, Michael B.;
    • Cho, Tae‐Joon;
    • Hoover‐Fong, Julie;
    • Parnell, Shawn E.;
    • Raggio, Cathleen;
    • Spencer, Samantha A.;
    • Campbell, Jeffery W.;
    • Rapoport, David M.;
    • Kifle, Yemiserach;
    • Blackledge, Marcella
    Publication type:
    Article
    41

    An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1080, doi. 10.1002/ajmg.a.37547
    By:
    • Mackenroth, Luisa;
    • Fischer‐Zirnsak, Björn;
    • Egerer, Johannes;
    • Hecht, Jochen;
    • Kallinich, Tilmann;
    • Stenzel, Werner;
    • Spors, Birgit;
    • von Moers, Arpad;
    • Mundlos, Stefan;
    • Kornak, Uwe;
    • Gerhold, Kerstin;
    • Horn, Denise
    Publication type:
    Article
    42
    43
    44
    45

    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 824, doi. 10.1002/ajmg.a.37616
    Publication type:
    Article
    46