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Authors whose works are in public domain in at least one jurisdiction

List of works by Raúl E Piña-Aguilar

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

scientific article published on 26 September 2016
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

scientific article
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

scientific article
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case

scientific article published on 01 May 2013
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

scientific article published on 03 May 2016
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.

scientific article
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

scientific article published on 31 October 2019
Intracytoplasmic sperm injection (ICSI) in small ruminants.

scientific article published on 20 July 2012
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing

scientific article published on 01 January 2019
27 years of prenatal diagnosis for Huntington disease in the United Kingdom

scientific article published on 14 December 2018
[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia]

scientific article published on 01 January 2018
Bringing together clinical embryology and basic reproduction around human cloning

scientific article published on 14 October 2008
Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss

scientific article published on 09 April 2012
Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.

scientific article published on 26 November 2014
Natural-cycle in vitro fertilization (IVF) combined with in vitro maturation in infertile patients with polycystic ovarian syndrome (PCOS) requiring IVF

scientific article published on 01 March 2019
A human reproductive approach to the study of infertility in chimpanzees: An experience at Leon's Zoological Park, Mexico

scientific article published on 15 September 2016
Are Y chromosome microdeletions and recurrent pregnancy loss really associated?

scientific article published on 15 July 2009
Testicular somatic cell-like cells derived from embryonic stem cells induce differentiation of epiblasts into germ cells

scientific article published on 28 June 2021
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment

scientific article published on 17 February 2020
A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy.

scientific article published on 22 February 2016
The future of sperm-derived mRNAs

scientific article published on 04 May 2006
Genetic screening in the American Society for Reproductive Medicine's new guidelines on diagnostic evaluation of the infertile male

scientific article published on January 18, 2013
Birth after human chorionic gonadotropin-primed oocyte in vitro maturation and fertilization with testicular sperm in a normo-ovulatory patient.

scientific article published on July 2016
The future of sperm-derived mRNAs.

scientific article
Colestasis por deficiencia de 3b-Δ5-C27-hidroxiesteroide deshidrogenasa en un paciente con alteración en la síntesis de ácidos biliares

scientific article published on 01 January 2018

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