Search Results - "Mora-Roldan GA"

Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.

Authors: Mora-Roldan GA Nava J Gazarian K et al.

Source: Stem cell research [Stem Cell Res] 2024 Mar; Vol. 75, pp. 103309. Date of Electronic Publication: 2024 Jan 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.

Authors: Tan X Huang Y Wei X et al.

Source: BMC medical genomics [BMC Med Genomics] 2026 May 09; Vol. 19 (1). Date of Electronic Publication: 2026 May 09.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69.

Authors: Sadr Z Ghasemi A Rohani M et al.

Source: Neurogenetics [Neurogenetics] 2024 Nov 28; Vol. 26 (1), pp. 12. Date of Electronic Publication: 2024 Nov 28.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Comparison of osteoclast differentiation protocols from human induced pluripotent stem cells of different tissue origins.

Authors: Blümke, Alexander Ijeoma, Erica Simon, Jessica et al.

Source: Stem Cell Research & Therapy. 11/7/2023, Vol. 14 Issue 1, p1-20. 20p.

تخصصی شدن ساختارهاي شبه هماتو -اندوتلیال و تولید سلولهاي پیشساز خونی از سلولهاي بنیادي پرتوان انسانی.

Alternate Title: Specification of Hemato-Endothelial-Like Structures and Generation of Hematopoietic Progenitor Cells from Human Pluripotent Stem Cells.

Authors: مژگان براتی مرضیه ابراهیمی سیده نفیسه حسنی

Source: Journal of Mazandaran University of Medical Sciences (JMUMS). 2023, Vol. 32 Issue 216, p1-19. 19p.

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

Authors: Mora-Roldan GA Galaviz-Hernandez C Hiebert-Froese J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 1972-1978. Date of Electronic Publication: 2022 Mar 11.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE