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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunitiesEstrada‐Veras, Juvianee I. ; Cabrera‐Peña, Giselle A. ; Pérez‐Estrella de Ferrán, CeilaMolecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.243-256 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humansBai, Renkui ; Cui, Hong ; Devaney, Joseph M. ; Allis, Katrina M. ; Balog, Amanda M. ; Liu, Xinyue ; Schnur, Rhonda E. ; Shapiro, Faye L. ; Brautbar, Ariel ; Estrada-Veras, Juvianee I. ; Hochstetler, Laurel ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Solomon, Benjamin D. ; Hofherr, Sean ; Richard, Gabriele ; Suchy, Sharon F.Genetics in medicine, 2021-08, Vol.23 (8), p.1514-1521 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Material Type: Artigo
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Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98ArgSchmidt, Lindsey ; Wain, Karen E. ; Hajek, Catherine ; Estrada-Veras, Juvianee I. ; Guillen Sacoto, Maria J. ; Wentzensen, Ingrid M. ; Malhotra, Alka ; Clause, Amanda ; Perry, Denise ; Moreno-De-Luca, Andres ; Bell, MeganMolecular syndromology, 2021-03, Vol.12 (1), p.33-40 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Mutation update for the SATB2 geneZarate, Yuri A. ; Bosanko, Katherine A. ; Caffrey, Aisling R. ; Bernstein, Jonathan A. ; Martin, Donna M. ; Williams, Marc S. ; Berry‐Kravis, Elizabeth M. ; Mark, Paul R. ; Manning, Melanie A. ; Bhambhani, Vikas ; Vargas, Marcelo ; Seeley, Andrea H. ; Estrada‐Veras, Juvianee I. ; Dooren, Marieke F. ; Schwab, Maria ; Vanderver, Adeline ; Melis, Daniela ; Alsadah, Adnan ; Sadler, Laurie ; Esch, Hilde ; Callewaert, Bert ; Oostra, Ann ; Maclean, Jane ; Dentici, Maria Lisa ; Orlando, Valeria ; Lipson, Mark ; Sparagana, Steven P. ; Maarup, Timothy J. ; Alsters, Suzanne IM ; Brautbar, Ariel ; Kovitch, Eliana ; Naidu, Sakkubai ; Lees, Melissa ; Smith, Douglas M. ; Turner, Lesley ; Raggio, Víctor ; Spangenberg, Lucía ; Garcia‐Miñaúr, Sixto ; Roeder, Elizabeth R. ; Littlejohn, Rebecca O. ; Grange, Dorothy ; Pfotenhauer, Jean ; Jones, Marilyn C. ; Balasubramanian, Meena ; Martinez‐Monseny, Antonio ; Blok, Lot Snijders ; Gavrilova, Ralitza ; Fish, Jennifer L.Human mutation, 2019-08, Vol.40 (8), p.1013-1029, Article humu.23771 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |