Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 7

Results: 47
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    Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1878, doi. 10.1002/ajmg.a.38252
    By:
    • Evers, Christina;
    • Seitz, Angelika;
    • Assmann, Birgit;
    • Opladen, Thomas;
    • Karch, Stephanie;
    • Hinderhofer, Katrin;
    • Granzow, Martin;
    • Paramasivam, Nagarajan;
    • Eils, Roland;
    • Diessl, Nicolle;
    • Bartram, Claus R.;
    • Moog, Ute
    Publication type:
    Article
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    Mandibulofacial dysostosis Bauru type: Refining the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1747, doi. 10.1002/ajmg.a.38257
    By:
    • Moura, Priscila P.;
    • Kokitsu‐Nakata, Nancy M.;
    • Yatabe, Marília S.;
    • Vendramini‐Pittoli, Siulan;
    • Hori, Pedro H.;
    • Guion‐Almeida, Maria L.;
    • Garib, Daniela G.;
    • Richieri‐Costa, Antonio;
    • Zechi‐Ceide, Roseli M.
    Publication type:
    Article
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    A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1979, doi. 10.1002/ajmg.a.38259
    By:
    • Brunelli, Luca;
    • Mao, Rong;
    • Jenkins, Sabrina Malone;
    • Bleyl, Steven B.;
    • Dames, Shale A.;
    • Miller, Christine E.;
    • Ostrander, Betsy;
    • Tvrdik, Tatiana;
    • Andrews, Seth;
    • Flores, Josue;
    • Patel, Shrena;
    • Gudgeon, James M.;
    • Schaefer, Susan
    Publication type:
    Article
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    Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1763, doi. 10.1002/ajmg.a.38246
    By:
    • Paolacci, Stefano;
    • Bertola, Debora;
    • Franco, José;
    • Mohammed, Shehla;
    • Tartaglia, Marco;
    • Wollnik, Bernd;
    • Hennekam, Raoul C.
    Publication type:
    Article
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    Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1796, doi. 10.1002/ajmg.a.38272
    By:
    • Summers, Angela C.;
    • Snow, Joseph;
    • Wiggs, Edythe;
    • Liu, Alexander G.;
    • Toro, Camilo;
    • Poretti, Andrea;
    • Zein, Wadih M.;
    • Brooks, Brian P.;
    • Parisi, Melissa A.;
    • Inati, Sara;
    • Doherty, Dan;
    • Vemulapalli, Meghana;
    • Mullikin, Jim C.;
    • Vilboux, Thierry;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
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    Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1813, doi. 10.1002/ajmg.a.38274
    By:
    • Khandelwal, Kriti D.;
    • Ockeloen, Charlotte W.;
    • Venselaar, Hanka;
    • Boulanger, Cécile;
    • Brichard, Bénédicte;
    • Sokal, Etienne;
    • Pfundt, Rolph;
    • Rinne, Tuula;
    • van Beusekom, Ellen;
    • Bloemen, Marjon;
    • Vriend, Gerrit;
    • Revencu, Nicole;
    • Carels, Carine E. L.;
    • van Bokhoven, Hans;
    • Zhou, Huiqing
    Publication type:
    Article
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    Trisomy 18 and holoprosencephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1985, doi. 10.1002/ajmg.a.38129
    By:
    • Rosa, Rafael F. M.;
    • Correia, Elisa P. E.;
    • Bastos, Cristina S.;
    • da Silva, Gabriela S.;
    • Correia, Jamile D.;
    • da Rosa, Ernani B.;
    • Silveira, Daniélle B.;
    • Targa, Luciano V.;
    • da Cunha, André C.;
    • Zen, Paulo R. G.
    Publication type:
    Article
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    KBG syndrome: An Australian experience.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121
    By:
    • Murray, Natalia;
    • Burgess, Bronwyn;
    • Hay, Robin;
    • Colley, Alison;
    • Rajagopalan, Sulekha;
    • McGaughran, Julie;
    • Patel, Chirag;
    • Enriquez, Annabelle;
    • Goodwin, Linda;
    • Stark, Zornitza;
    • Tan, Tiong;
    • Wilson, Meredith;
    • Roscioli, Tony;
    • Tekin, Mustafa;
    • Goel, Himanshu
    Publication type:
    Article
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    Nomenclature and definition in asymmetric regional body overgrowth.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
    By:
    • Kalish, Jennifer M.;
    • Biesecker, Leslie G.;
    • Brioude, Frederic;
    • Deardorff, Matthew A.;
    • Di Cesare‐Merlone, Alessandra;
    • Druley, Todd;
    • Ferrero, Giovanni B.;
    • Lapunzina, Pablo;
    • Larizza, Lidia;
    • Maas, Saskia;
    • Macchiaiolo, Marina;
    • Maher, Eamonn R.;
    • Maitz, Silvia;
    • Martinez‐Agosto, Julian A.;
    • Mussa, Alessandro;
    • Robinson, Peter;
    • Russo, Silvia;
    • Selicorni, Angelo;
    • Hennekam, Raoul C.
    Publication type:
    Article
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    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267
    By:
    • Wade, Emma M.;
    • Jenkins, Zandra A.;
    • Daniel, Philip B.;
    • Morgan, Tim;
    • Addor, Marie C.;
    • Adés, Lesley C.;
    • Bertola, Debora;
    • Bohring, Axel;
    • Carter, Erin;
    • Cho, Tae‐Joon;
    • de Geus, Christa M.;
    • Duba, Hans‐Christoph;
    • Fletcher, Elaine;
    • Hadzsiev, Kinga;
    • Hennekam, Raoul C. M.;
    • Kim, Chong A.;
    • Krakow, Deborah;
    • Morava, Eva;
    • Neuhann, Teresa;
    • Sillence, David
    Publication type:
    Article
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    Cover Image, Volume 173A, Number 7, July 2017.

    Published in:
    2017
    By:
    • Kalish, Jennifer M.;
    • Biesecker, Leslie G.;
    • Brioude, Frederic;
    • Deardorff, Matthew A.;
    • Di Cesare‐Merlone, Alessandra;
    • Druley, Todd;
    • Ferrero, Giovanni B.;
    • Lapunzina, Pablo;
    • Larizza, Lidia;
    • Maas, Saskia;
    • Macchiaiolo, Marina;
    • Maher, Eamonn R.;
    • Maitz, Silvia;
    • Martinez‐Agosto, Julian A.;
    • Mussa, Alessandro;
    • Robinson, Peter;
    • Russo, Silvia;
    • Selicorni, Angelo;
    • Hennekam, Raoul C.
    Publication type:
    Other
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    Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1821, doi. 10.1002/ajmg.a.38280
    By:
    • Vermeulen, Karlijn;
    • de Boer, Anneke;
    • Janzing, Joost G. E.;
    • Koolen, David A.;
    • Ockeloen, Charlotte W.;
    • Willemsen, Marjolein H.;
    • Verhoef, Floor M.;
    • van Deurzen, Patricia A. M.;
    • van Dongen, Linde;
    • van Bokhoven, Hans;
    • Egger, Jos I. M.;
    • Staal, Wouter G.;
    • Kleefstra, Tjitske
    Publication type:
    Article
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    Vascular twin nevi.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1919, doi. 10.1002/ajmg.a.38117
    By:
    • Agirgol, Senay;
    • Ozturk, Hatice Nur;
    • Akbulut, Tugba Ozkok;
    • Gunduzoglu, Ceyda;
    • Koc, Leyli Kadriye;
    • Turkoglu, Zafer
    Publication type:
    Article
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