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Plos Genetics
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May 9, 2015
Cell Specific eQTL Analysis without Sorting Cells
Harm-Jan Westra, Danny Arends, Tõnu Esko, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
The Journal of Clinical Investigation
|
January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
The Journal of Clinical Investigation
|
February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
John F O'Toole, Yangjian Liu, Erica E Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Blood
|
July 26, 2018
DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis
Cavin K Ward-Caviness, Jennifer E Huffman, Karl Everett, et al.
Neurology
|
January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study
Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Nature Genetics
|
September 10, 2013
Systematic identification of trans eQTLs as putative drivers of known disease associations
Harm-Jan Westra, Marjolein J Peters, Tõnu Esko, et al.
The Lancet. Diabetes & Endocrinology
|
June 23, 2015
Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study
John C Chambers, Marie Loh, Benjamin Lehne, et al.
Page
of 37
Search research articles
Search
Showing results (341-350 of 370) with videos related to
Sort By:
Page
of 37
Plos Genetics
|
May 9, 2015
Cell Specific eQTL Analysis without Sorting Cells
Harm-Jan Westra, Danny Arends, Tõnu Esko, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
The Journal of Clinical Investigation
|
January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
The Journal of Clinical Investigation
|
February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
John F O'Toole, Yangjian Liu, Erica E Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Blood
|
July 26, 2018
DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis
Cavin K Ward-Caviness, Jennifer E Huffman, Karl Everett, et al.
Neurology
|
January 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study
Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, et al.
Nature Genetics
|
September 10, 2013
Systematic identification of trans eQTLs as putative drivers of known disease associations
Harm-Jan Westra, Marjolein J Peters, Tõnu Esko, et al.
The Lancet. Diabetes & Endocrinology
|
June 23, 2015
Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study
John C Chambers, Marie Loh, Benjamin Lehne, et al.
Page
of 37