Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 5

Results: 53
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    Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/ Microphthalmia- Esophageal Atresia Syndrome Negative for SOX 2 Mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1189, doi. 10.1002/ajmg.a.35854
    By:
    • Corona‐Rivera, J. Román;
    • Zenteno, Juan Carlos;
    • Pelcastre‐Luna, Erika;
    • Miguel‐Jiménez, Karla;
    • Aguirre‐Guillén, Rafael L.;
    • Cabral‐Macías, Jesús;
    • Peña‐Padilla, Christian;
    • Bobadilla‐Morales, Lucina;
    • Corona‐Rivera, Alfredo
    Publication type:
    Article
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    Trilateral Retinoblastoma in a Patient With Peutz- Jeghers Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1096, doi. 10.1002/ajmg.a.35748
    By:
    • Raizis, Anthony M.;
    • Van Mater, David;
    • Aaltonen, Lauri A.;
    • Lohmann, Dietmar;
    • Cheale, Michelle S.;
    • Bickley, Vivienne M.;
    • George, Peter M.;
    • Zhou, Yaolin;
    • Rosoff, Philip M.
    Publication type:
    Article
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    Clinical Comparison of Overlapping Deletions of 19p13.3.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1110, doi. 10.1002/ajmg.a.35923
    By:
    • Risheg, Hiba;
    • Pasion, Romela;
    • Sacharow, Stephanie;
    • Proud, Virginia;
    • Immken, LaDonna;
    • Schwartz, Stuart;
    • Tepperberg, Jim H.;
    • Papenhausen, Peter;
    • Tan, Tiong Y.;
    • Andrieux, Joris;
    • Plessis, Ghislaine;
    • Amor, David J.;
    • Keitges, Elisabeth A.
    Publication type:
    Article
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    Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low- Level Uniparental Disomy.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 993, doi. 10.1002/ajmg.a.35831
    By:
    • Kalish, Jennifer M.;
    • Conlin, Laura K.;
    • Mostoufi‐Moab, Sogol;
    • Wilkens, Alisha B.;
    • Mulchandani, Surabhi;
    • Zelley, Kristin;
    • Kowalski, Megan;
    • Bhatti, Tricia R.;
    • Russo, Pierre;
    • Mattei, Peter;
    • Mackenzie, William G.;
    • LiVolsi, Virginia;
    • Nichols, Kim E.;
    • Biegel, Jaclyn A.;
    • Spinner, Nancy B.;
    • Deardorff, Matthew A.
    Publication type:
    Article
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    Reduces Bone Mass as in Human Apert Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 983, doi. 10.1002/ajmg.a.35824
    By:
    • Zhou, Xia;
    • Pu, Dongquan;
    • Liu, Ri;
    • Li, Xiangjie;
    • Wen, Xiujie;
    • Zhang, Li;
    • Chen, Lin;
    • Deng, Manjing;
    • Liu, Luchuan
    Publication type:
    Article
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    Book Review.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1203, doi. 10.1002/ajmg.a.35750
    By:
    • Zahir, Farah R.
    Publication type:
    Article
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    IN THIS ISSUE.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. x, doi. 10.1002/ajmg.a.35978
    Publication type:
    Article
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    Fraser Syndrome: Epidemiological Study in a European Population.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1012, doi. 10.1002/ajmg.a.35839
    By:
    • Barisic, Ingeborg;
    • Odak, Ljubica;
    • Loane, Maria;
    • Garne, Ester;
    • Wellesley, Diana;
    • Calzolari, Elisa;
    • Dolk, Helen;
    • Addor, Marie‐Claude;
    • Arriola, Larraitz;
    • Bergman, Jorieke;
    • Bianca, Sebastiano;
    • Boyd, Patricia A.;
    • Draper, Elizabeth S;
    • Gatt, Miriam;
    • Haeusler, Martin;
    • Khoshnood, Babak;
    • Latos‐Bielenska, Anna;
    • McDonnell, Bob;
    • Pierini, Anna;
    • Rankin, Judith
    Publication type:
    Article
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    Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 921, doi. 10.1002/ajmg.a.35541
    By:
    • George‐Abraham, Jaya K.;
    • Martin, Lisa J.;
    • Kalkwarf, Heidi J.;
    • Rieley, Margaret B.;
    • Stevenson, David A.;
    • Viskochil, David H.;
    • Hopkin, Robert J.;
    • Stevens, Austin M.;
    • Hanson, Heather;
    • Schorry, Elizabeth K.
    Publication type:
    Article
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    Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1177, doi. 10.1002/ajmg.a.35830
    By:
    • Bagordakis, Elizabete;
    • Paranaiba, Lívia Máris Ribeiro;
    • Brito, Luciano Abreu;
    • de Aquino, Sibele Nascimento;
    • Messetti, Ana Camila;
    • Martelli‐Junior, Hercílio;
    • Swerts, Mario Sergio Oliveira;
    • Graner, Edgard;
    • Passos‐Bueno, Maria Rita;
    • Coletta, Ricardo D.
    Publication type:
    Article
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    Thoracic Aortic Aneurysm in Infancy in Aneurysms- Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1028, doi. 10.1002/ajmg.a.35852
    By:
    • Wischmeijer, Anita;
    • Van Laer, Lut;
    • Tortora, Giada;
    • Bolar, Nikhita Ajit;
    • Van Camp, Guy;
    • Fransen, Erik;
    • Peeters, Nils;
    • di Bartolomeo, Roberto;
    • Pacini, Davide;
    • Gargiulo, Gaetano;
    • Turci, Simone;
    • Bonvicini, Marco;
    • Mariucci, Elisabetta;
    • Lovato, Luigi;
    • Brusori, Stefano;
    • Ritelli, Marco;
    • Colombi, Marina;
    • Garavelli, Livia;
    • Seri, Marco;
    • Loeys, Bart L.
    Publication type:
    Article
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    Keratoconus in Costello Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1132, doi. 10.1002/ajmg.a.35816
    By:
    • Gripp, Karen W.;
    • Demmer, Laurie A.
    Publication type:
    Article
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    Another Rare Prenatal Case of Post- Zygotic Mosaic Trisomy 17.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1196, doi. 10.1002/ajmg.a.35867
    By:
    • de Vries, Femke A.T.;
    • Govaerts, Lutgarde C.P.;
    • Knijnenburg, Jeroen;
    • Knapen, Maarten F.C.M.;
    • Oudesluijs, Grétel G.;
    • Lont, Debora;
    • Noomen, Petra;
    • de Graaff, Katja;
    • Srebniak, Malgorzata I.;
    • Van Opstal, Diane
    Publication type:
    Article
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    Intellectual Disability and Hemizygous GPD 2 Mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873
    By:
    • Barge‐Schaapveld, Daniela Q.C.M.;
    • Ofman, Rob;
    • Knegt, Alida C.;
    • Alders, Mariëlle;
    • Höhne, Wolfgang;
    • Kemp, Stephan;
    • Hennekam, Raoul C.M.
    Publication type:
    Article
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