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Raul E Piña-Aguilar

Showing results (1-10 of 18) with videos related to

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Current Protocols in Human Genetics|December 28, 2020
Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger SequencingKatarena Nalbandian, Raul E Piña-Aguilar, Cynthia C Morton
Taiwanese Journal of Obstetrics & Gynecology|March 27, 2019
Natural-cycle in vitro fertilization (IVF) combined with in vitro maturation in infertile patients with polycystic ovarian syndrome (PCOS) requiring IVFClaudia González-Ortega, Raul E Piña-Aguilar, Patricia Cancino-Villarreal, et al.
American Journal of Medical Genetics. Part A|May 4, 2016
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndromeOscar F Chacón-Camacho, Nara Sobreira, Jing You, et al.
Boletin Medico Del Hospital Infantil De Mexico|January 19, 2019
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencingCarolina I Galaz-Montoya, Sofia Alcaraz-Estrada, Leopoldo A García-Montaño, et al.
Human Genetics|February 8, 2020
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscapeDezső David, João P Freixo, Joana Fino, et al.
Case Reports in Neurological Medicine|October 29, 2014
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C diseaseRaul E Piña-Aguilar, Aurea Vera-Loaiza, Oscar F Chacón-Camacho, et al.
Cloning and Stem Cells|July 15, 2009
Revival of extinct species using nuclear transfer: hope for the mammoth, true for the Pyrenean ibex, but is it time for "conservation cloning"?Raul E Piña-Aguilar, Janet Lopez-Saucedo, Richard Sheffield, et al.
European Journal of Medical Genetics|December 13, 2012
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivationRaul E Piña-Aguilar, Gerardo R Zaragoza-Arévalo, Isabella Rau, et al.
World Journal of Gastroenterology|January 28, 2015
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiencyYuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W Xin, et al.
American Journal of Medical Genetics. Part A|November 28, 2014
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligenceOscar F Chacon-Camacho, Vanessa Villegas-Ruiz, Beatriz Buentello-Volante, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Current Protocols in Human Genetics|December 28, 2020
Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger SequencingKatarena Nalbandian, Raul E Piña-Aguilar, Cynthia C Morton
Taiwanese Journal of Obstetrics & Gynecology|March 27, 2019
Natural-cycle in vitro fertilization (IVF) combined with in vitro maturation in infertile patients with polycystic ovarian syndrome (PCOS) requiring IVFClaudia González-Ortega, Raul E Piña-Aguilar, Patricia Cancino-Villarreal, et al.
American Journal of Medical Genetics. Part A|May 4, 2016
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndromeOscar F Chacón-Camacho, Nara Sobreira, Jing You, et al.
Boletin Medico Del Hospital Infantil De Mexico|January 19, 2019
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencingCarolina I Galaz-Montoya, Sofia Alcaraz-Estrada, Leopoldo A García-Montaño, et al.
Human Genetics|February 8, 2020
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscapeDezső David, João P Freixo, Joana Fino, et al.
Case Reports in Neurological Medicine|October 29, 2014
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C diseaseRaul E Piña-Aguilar, Aurea Vera-Loaiza, Oscar F Chacón-Camacho, et al.
Cloning and Stem Cells|July 15, 2009
Revival of extinct species using nuclear transfer: hope for the mammoth, true for the Pyrenean ibex, but is it time for "conservation cloning"?Raul E Piña-Aguilar, Janet Lopez-Saucedo, Richard Sheffield, et al.
European Journal of Medical Genetics|December 13, 2012
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivationRaul E Piña-Aguilar, Gerardo R Zaragoza-Arévalo, Isabella Rau, et al.
World Journal of Gastroenterology|January 28, 2015
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiencyYuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W Xin, et al.
American Journal of Medical Genetics. Part A|November 28, 2014
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligenceOscar F Chacon-Camacho, Vanessa Villegas-Ruiz, Beatriz Buentello-Volante, et al.
Pageof 2