Works matching IS 15524868 AND DT 2020 AND VI 184 AND IP 4

Results: 23
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    Generalized hypertrichosis syndromes in Mexico.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1014, doi. 10.1002/ajmg.c.31864
    By:
    • Aguayo‐Orozco, Thania Alejandra;
    • Ríos‐González, Blanca Estela;
    • Castro‐Martínez, Anna Gabriela;
    • Ruiz‐Ramírez, Andrea Virginia;
    • Figuera, Luis E.
    Publication type:
    Article
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    Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1052, doi. 10.1002/ajmg.c.31870
    By:
    • Abell, Katherine;
    • Chadwell, Sarah E.;
    • Burrow, Thomas Andrew;
    • Becker, Ana Paula Pizzio;
    • Bailey, Laurie;
    • Steele, Paul;
    • Zhang, Xue;
    • Islas‐Ohlmayer, Miguel;
    • Bittencourt, Rosane;
    • Schwartz, Ida Vanessa Doederlein;
    • Prada, Carlos E.
    Publication type:
    Article
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    The Latin American network for congenital malformation surveillance: ReLAMC.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1078, doi. 10.1002/ajmg.c.31872
    By:
    • Orioli, Iêda Maria;
    • Dolk, Helen;
    • Lopez‐Camelo, Jorge;
    • Groisman, Boris;
    • Benavides‐Lara, Adriana;
    • Gimenez, Lucas Gabriel;
    • Correa, Daniel Mattos;
    • Ascurra, Marta;
    • Bonilha, Eliana;
    • Canessa‐Tapia, Maria Aurora;
    • França, Giovanny Vinícius Araújo;
    • Hurtado‐Villa, Paula;
    • Ibarra‐Ramírez, Marisol;
    • Pardo, Rosa;
    • Pastora, Dania Maria;
    • Zarante, Ignacio;
    • Soares, Flávia Schneider;
    • Carvalho, Flávia Martinez;
    • Piola, Mariana
    Publication type:
    Article
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    Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1030, doi. 10.1002/ajmg.c.31871
    By:
    • Sobering, Andrew K.;
    • Li, Dong;
    • Beighley, Jennifer S.;
    • Carey, John C.;
    • Donald, Tyhiesia;
    • Elsea, Sarah H.;
    • Figueroa, Karla P.;
    • Gerdts, Jennifer;
    • Hamlet, Andre;
    • Mirzaa, Ghayda M.;
    • Nelson, Beverly;
    • Pulst, Stefan M.;
    • Smith, Janice L.;
    • Tassone, Flora;
    • Toriello, Helga V.;
    • Walker, Ruth H.;
    • Yearwood, Katherine R.;
    • Bhoj, Elizabeth J.
    Publication type:
    Article
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    Skeletal dysplasias in Latin America.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 986, doi. 10.1002/ajmg.c.31861
    By:
    • Cavalcanti, Denise P.;
    • Fano, Virginia;
    • Mellado, Cecilia;
    • Lacarrubba‐Flores, Maria Dora J.;
    • Silveira, Cynthia;
    • Silveira, Karina C.;
    • Pino, Mariana;
    • Moresco, Angelica;
    • Caino, Silvia;
    • Ramos Mejía, Rosario;
    • García, Cristián J.;
    • Lay‐Son, Guillermo;
    • Ferreira, Carlos R.
    Publication type:
    Article
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    Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 955, doi. 10.1002/ajmg.c.31860
    By:
    • Quaio, Caio Robledo D'Angioli Costa;
    • Moreira, Caroline Monaco;
    • Novo‐Filho, Gil Monteiro;
    • Sacramento‐Bobotis, Patricia Rossi;
    • Groenner Penna, Michele;
    • Perazzio, Sandro Felix;
    • Dutra, Aurelio Pimenta;
    • Silva, Rafael Alves;
    • Santos, Monize Nakamoto Provisor;
    • Arruda, Vanessa Yurie Nozaki;
    • Freitas, Vanessa Galdeno;
    • Pereira, Vinícius Ceola;
    • Pintao, Maria Carolina;
    • Fornari, Alexandre Ricardo dos Santos;
    • Buzolin, Ana Lígia;
    • Oku, Andre Yuji;
    • Burger, Matheus;
    • Ramalho, Rodrigo Fernandes;
    • Marco Antonio, David Santos;
    • Ferreira, Elisa Napolitano
    Publication type:
    Article
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    Genomic imbalances in craniofacial microsomia.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 970, doi. 10.1002/ajmg.c.31857
    By:
    • Spineli‐Silva, Samira;
    • Sgardioli, Ilária C.;
    • Santos, Ana P.;
    • Bergamini, Luna L.;
    • Monlleó, Isabella L.;
    • Fontes, Marshall I. B.;
    • Félix, Têmis M.;
    • Ribeiro, Erlane M.;
    • Xavier, Ana C.;
    • Lustosa‐Mendes, Elaine;
    • Gil‐da‐Silva‐Lopes, Vera L.;
    • Vieira, Tarsis P.
    Publication type:
    Article
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    The odyssey of complex neurogenetic disorders: From undetermined to positive.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 876, doi. 10.1002/ajmg.c.31848
    By:
    • Salinas, Valeria;
    • Vega, Patricia;
    • Marsili, Luca;
    • Pérez‐Maturo, Josefina;
    • Martínez, Nerina;
    • Zavala, Lucia;
    • González‐Morón, Dolores;
    • Medina, Nancy;
    • Rodriguez‐Quiroga, Sergio A.;
    • Amartino, Hernán;
    • Maxit, Clarisa;
    • Sturchio, Andrea;
    • Grimberg, Barbara;
    • Duque, Kevin;
    • Comas, Betiana;
    • Silva, Walter;
    • Consalvo, Damián;
    • Sfaello, Ignacio;
    • Espay, Alberto J.;
    • Kauffman, Marcelo A.
    Publication type:
    Article
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    Genetic admixture in Brazil.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 928, doi. 10.1002/ajmg.c.31853
    By:
    • Pena, Sergio D. J.;
    • Santos, Fabrício R.;
    • Tarazona‐Santos, Eduardo
    Publication type:
    Article
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    Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 896, doi. 10.1002/ajmg.c.31851
    By:
    • Bertola, Débora R.;
    • Castro, Matheus A. A.;
    • Yamamoto, Guilherme L.;
    • Honjo, Rachel S.;
    • Ceroni, José Ricardo;
    • Buscarilli, Michele M.;
    • Freitas, Amanda B.;
    • Malaquias, Alexsandra C.;
    • Pereira, Alexandre C.;
    • Jorge, Alexander A. L.;
    • Passos‐Bueno, Maria Rita;
    • Kim, Chong A.
    Publication type:
    Article
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    Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 939, doi. 10.1002/ajmg.c.31854
    By:
    • González‐Ramos, Isaura‐Araceli;
    • Mantilla‐Capacho, Johanna‐Milena;
    • Luna‐Záizar, Hilda;
    • Mundo‐Ayala, Jessica‐Noemi;
    • Lara‐Navarro, Irving‐Jair;
    • Ornelas‐Ricardo, Diana;
    • González Alcázar, José‐Ángel;
    • Evangelista‐Castro, Natalia;
    • Jaloma‐Cruz, Ana Rebeca
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 872, doi. 10.1002/ajmg.c.31715
    Publication type:
    Article
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