Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 5

Results: 51
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    Clairvoyance.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1242, doi. 10.1002/ajmg.a.37586
    By:
    • Urquhart, Emily
    Publication type:
    Article
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    Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1115, doi. 10.1002/ajmg.a.37587
    By:
    • Tooley, Madeleine;
    • Lynch, Danielle;
    • Bernier, Francois;
    • Parboosingh, Jillian;
    • Bhoj, Elizabeth;
    • Zackai, Elaine;
    • Calder, Alistair;
    • Itasaki, Nobue;
    • Wakeling, Emma;
    • Scott, Richard;
    • Lees, Melissa;
    • Clayton‐Smith, Jill;
    • Blyth, Moira;
    • Morton, Jenny;
    • Shears, Debbie;
    • Kini, Usha;
    • Homfray, Tessa;
    • Clarke, Angus;
    • Barnicoat, Angela;
    • Wallis, Colin
    Publication type:
    Article
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    A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1370, doi. 10.1002/ajmg.a.37557
    By:
    • Hasegawa, Kosei;
    • Fukuhara, Rie;
    • Moriwake, Tadashi;
    • Tanaka, Hiroyuki;
    • Higuchi, Yousuke;
    • Yamashita, Miho;
    • Tsukahara, Hirokazu
    Publication type:
    Article
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    Publication schedule for 2016.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1110, doi. 10.1002/ajmg.a.37313
    Publication type:
    Article
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    Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1317, doi. 10.1002/ajmg.a.37577
    By:
    • Marguet, Florent;
    • Laquerrière, Annie;
    • Goldenberg, Alice;
    • Guerrot, Anne‐Marie;
    • Quenez, Olivier;
    • Flahaut, Philippe;
    • Vanhulle, Catherine;
    • Dumant‐Forest, Clémentine;
    • Charbonnier, Françoise;
    • Vezain, Myriam;
    • Bekri, Soumeya;
    • Tournier, Isabelle;
    • Frébourg, Thierry;
    • Nicolas, Gaël
    Publication type:
    Article
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    ADAT3-related intellectual disability: Further delineation of the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
    By:
    • El‐Hattab, Ayman W.;
    • Saleh, Mohammed A.;
    • Hashem, Amal;
    • Al‐Owain, Mohammed;
    • Asmari, Ali Al;
    • Rabei, Hala;
    • Abdelraouf, Hanem;
    • Hashem, Mais;
    • Alazami, Anas M.;
    • Patel, Nisha;
    • Shaheen, Ranad;
    • Faqeih, Eissa A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1114, doi. 10.1002/ajmg.a.37647
    Publication type:
    Article
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    Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1352, doi. 10.1002/ajmg.a.37594
    By:
    • Cesaretti, Claudia;
    • Spaccini, Luigina;
    • Righini, Andrea;
    • Parazzini, Cecilia;
    • Conte, Giorgio;
    • Crosti, Francesca;
    • Redaelli, Serena;
    • Bulfamante, Gaetano;
    • Avagliano, Laura;
    • Rustico, Mariangela
    Publication type:
    Article
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    Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1165, doi. 10.1002/ajmg.a.37595
    By:
    • Brownstein, Catherine A.;
    • Kleiman, Robin J.;
    • Engle, Elizabeth C.;
    • Towne, Meghan C.;
    • D'Angelo, Eugene J.;
    • Yu, Timothy W.;
    • Beggs, Alan H.;
    • Picker, Jonathan;
    • Fogler, Jason M.;
    • Carroll, Devon;
    • Schmitt, Rachel C. O.;
    • Wolff, Robert R.;
    • Shen, Yiping;
    • Lip, Va;
    • Bilguvar, Kaya;
    • Kim, April;
    • Tembulkar, Sahil;
    • O'Donnell, Kyle;
    • Gonzalez‐Heydrich, Joseph
    Publication type:
    Article
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    Cover Image, Volume 170A, Number 5, May 2016.

    Published in:
    2016
    By:
    • Tooley, Madeleine;
    • Lynch, Danielle;
    • Bernier, Francois;
    • Parboosingh, Jillian;
    • Bhoj, Elizabeth;
    • Zackai, Elaine;
    • Calder, Alistair;
    • Itasaki, Nobue;
    • Wakeling, Emma;
    • Scott, Richard;
    • Lees, Melissa;
    • Clayton‐Smith, Jill;
    • Blyth, Moira;
    • Morton, Jenny;
    • Shears, Debbie;
    • Kini, Usha;
    • Homfray, Tessa;
    • Clarke, Angus;
    • Barnicoat, Angela;
    • Wallis, Colin
    Publication type:
    Other
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    Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1181, doi. 10.1002/ajmg.a.37542
    By:
    • Omokawa, Mayu;
    • Ayabe, Tadayuki;
    • Nagai, Toshiro;
    • Imanishi, Aya;
    • Omokawa, Ayumi;
    • Nishino, Seiji;
    • Sagawa, Yohei;
    • Shimizu, Tetsuo;
    • Kanbayashi, Takashi
    Publication type:
    Article
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    Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1216, doi. 10.1002/ajmg.a.37564
    By:
    • Urquhart, Jill;
    • Roberts, Rebecca;
    • de Silva, Deepthi;
    • Shalev, Stavit;
    • Chervinsky, Elena;
    • Nampoothiri, Sheela;
    • Sznajer, Yves;
    • Revencu, Nicole;
    • Gunasekera, Romesh;
    • Suri, Mohnish;
    • Ellingford, Jamie;
    • Williams, Simon;
    • Bhaskar, Sanjeev;
    • Clayton‐Smith, Jill
    Publication type:
    Article
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    The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1283, doi. 10.1002/ajmg.a.37565
    By:
    • Tomaszewska, Agnieszka;
    • Behrendt, Jakub;
    • Boter, Marjan;
    • Wawrzkiewicz‐Witkowska, Angelika;
    • Bos, Marnix J.;
    • Podbiol‐Palenta, Agnieszka;
    • Godula‐Stuglik, Urszula;
    • Galjaard, Robert‐Jan H.;
    • Srebniak, Malgorzata I.
    Publication type:
    Article
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