Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 7

Results: 56
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    The role of cytomegalovirus in schizencephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1768, doi. 10.1002/ajmg.a.33922
    By:
    • Spalice, Alberto;
    • Del Balzo, Francesca;
    • Nicita, Francesco;
    • Papetti, Laura;
    • Ursitti, Fabiana;
    • Iannetti, Paola
    Publication type:
    Article
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    The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1536, doi. 10.1002/ajmg.a.34070
    By:
    • Marangi, Giuseppe;
    • Ricciardi, Stefania;
    • Orteschi, Daniela;
    • Lattante, Serena;
    • Murdolo, Marina;
    • Dallapiccola, Bruno;
    • Biscione, Chiara;
    • Lecce, Rosetta;
    • Chiurazzi, Pietro;
    • Romano, Corrado;
    • Greco, Donatella;
    • Pettinato, Rosa;
    • Sorge, Giovanni;
    • Pantaleoni, Chiara;
    • Alfei, Enrico;
    • Toldo, Irene;
    • Magnani, Cinzia;
    • Bonanni, Paolo;
    • Martinez, Federica;
    • Serra, Gigliola
    Publication type:
    Article
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    In memoriam: Charles J. Epstein.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1509, doi. 10.1002/ajmg.a.34126
    By:
    • Carey, John C.;
    • Golabi, Mahin;
    • Korenberg, Julie R.
    Publication type:
    Article
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    Spectrum of MLL2 ( ALR) mutations in 110 cases of Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1511, doi. 10.1002/ajmg.a.34074
    By:
    • Hannibal, Mark C.;
    • Buckingham, Kati J.;
    • Ng, Sarah B.;
    • Ming, Jeffrey E.;
    • Beck, Anita E.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Bigham, Abigail W.;
    • Tabor, Holly K.;
    • Mefford, Heather C.;
    • Cook, Joseph;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Tadashi;
    • Matsumoto, Naomichi;
    • Miyake, Noriko;
    • Tonoki, Hidefumi;
    • Naritomi, Kenji;
    • Kaname, Tadashi;
    • Nagai, Toshiro;
    • Ohashi, Hirofumi
    Publication type:
    Article
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    Rett syndrome: A study of the face.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1563, doi. 10.1002/ajmg.a.34027
    By:
    • Allanson, Judith E.;
    • Hennekam, Raoul C.M.;
    • Moog, Ute;
    • Smeets, Eric E.
    Publication type:
    Article
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    Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1697, doi. 10.1002/ajmg.a.33976
    By:
    • Melis, Daniela;
    • Genesio, Rita;
    • Cappuccio, Gerarda;
    • MariaGinocchio, Virginia;
    • Casa, Roberto Della;
    • Menna, Giuseppe;
    • Buffardi, Salvatore;
    • Poggi, Vincenzo;
    • Leszle, Anna;
    • Imperati, Floriana;
    • Carella, Massimo;
    • Izzo, Antonella;
    • Del Giudice, Ennio;
    • Nitsch, Lucio;
    • Andria, Generoso
    Publication type:
    Article
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    Phenotypic variability of distal 22q11.2 copy number abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
    By:
    • Tan, Tiong Yang;
    • Collins, Amanda;
    • James, Paul A.;
    • McGillivray, George;
    • Stark, Zornitza;
    • Gordon, Christopher T.;
    • Leventer, Richard J.;
    • Pope, Kate;
    • Forbes, Robin;
    • Crolla, John A.;
    • Ganesamoorthy, Devika;
    • Burgess, Trent;
    • Bruno, Damien L.;
    • Slater, Howard R.;
    • Farlie, Peter G.;
    • Amor, David J.
    Publication type:
    Article
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    Array-CGH study of partial trisomy 9p without mental retardation.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1735, doi. 10.1002/ajmg.a.34044
    By:
    • Abdallah Bouhjar, Inesse Ben;
    • Hannachi, Hanane;
    • Mougou Zerelli, Soumaya;
    • Labalme, Audrey;
    • Gmidène, Abir;
    • Soyah, Najla;
    • Missaoui, Sonia;
    • Sanlaville, Damien;
    • Elghezal, Hatem;
    • Saad, Ali
    Publication type:
    Article
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    Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1581, doi. 10.1002/ajmg.a.34036
    By:
    • Brito, Luciano A.;
    • Cruz, Lucas A.;
    • Rocha, Kátia M.;
    • Barbara, Ligia K.;
    • Silva, Camila B.F.;
    • Bueno, Daniela F.;
    • Aguena, Meire;
    • Bertola, Débora R.;
    • Franco, Diogo;
    • Costa, André M.;
    • Alonso, Nivaldo;
    • Otto, Paulo A.;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article
    43

    Book review.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1767, doi. 10.1002/ajmg.a.34007
    By:
    • Fraser, F. Clarke
    Publication type:
    Article
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    Adults with Rubinstein-Taybi syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1680, doi. 10.1002/ajmg.a.34058
    By:
    • Stevens, Cathy A.;
    • Pouncey, Jill;
    • Knowles, Darcy
    Publication type:
    Article
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    In memoriam: Ahmad S. Teebi, 1949-2010.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1507, doi. 10.1002/ajmg.a.34069
    By:
    • Der Kaloustian, Vazken M.
    Publication type:
    Article
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