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Refinado por: assunto: Genetics & Heredity remover
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1
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
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Artigo
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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

EstradaVeras, Juvianee I. ; Cabrera‐Peña, Giselle A. ; Pérez‐Estrella de Ferrán, Ceila

Molecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.243-256 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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2
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
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Artigo
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

Bai, 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 Inc

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3
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
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Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

Schmidt, 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, Megan

Molecular syndromology, 2021-03, Vol.12 (1), p.33-40 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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4
Mutation update for the SATB2 gene
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Artigo
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Mutation update for the SATB2 gene

Zarate, 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. ; EstradaVeras, 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 Limited

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