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Thomas Meitinger

Showing results (171-180 of 508) with videos related to

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Scientific Reports|November 15, 2018
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutationBeate Hagl, Benedikt D Spielberger, Silvia Thoene, et al.
Neurogenetics|January 15, 2008
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13David Kemlink, Giuseppe Plazzi, Roberto Vetrugno, et al.
Plos Genetics|August 20, 2011
Discovery of sexual dimorphisms in metabolic and genetic biomarkersKirstin Mittelstrass, Janina S Ried, Zhonghao Yu, et al.
Journal of Medical Genetics|May 17, 2011
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal diseaseBarbara Schormair, Jens Plag, Maria Kaffe, et al.
Epigenetics & Chromatin|February 3, 2017
Genome-wide methylation data mirror ancestry informationElior Rahmani, Liat Shenhav, Regev Schweiger, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Frontiers in Pediatrics|October 17, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome casesMaryam Najafi, Korbinian M Riedhammer, Aboulfazl Rad, et al.
Nature Genetics|December 9, 2014
Mutations in the deubiquitinase gene USP8 cause Cushing's diseaseMartin Reincke, Silviu Sbiera, Akira Hayakawa, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Pageof 51

Showing results (171-180 of 508) with videos related to

Sort By:
Pageof 51
Scientific Reports|November 15, 2018
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutationBeate Hagl, Benedikt D Spielberger, Silvia Thoene, et al.
Neurogenetics|January 15, 2008
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13David Kemlink, Giuseppe Plazzi, Roberto Vetrugno, et al.
Plos Genetics|August 20, 2011
Discovery of sexual dimorphisms in metabolic and genetic biomarkersKirstin Mittelstrass, Janina S Ried, Zhonghao Yu, et al.
Journal of Medical Genetics|May 17, 2011
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal diseaseBarbara Schormair, Jens Plag, Maria Kaffe, et al.
Epigenetics & Chromatin|February 3, 2017
Genome-wide methylation data mirror ancestry informationElior Rahmani, Liat Shenhav, Regev Schweiger, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Frontiers in Pediatrics|October 17, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome casesMaryam Najafi, Korbinian M Riedhammer, Aboulfazl Rad, et al.
Nature Genetics|December 9, 2014
Mutations in the deubiquitinase gene USP8 cause Cushing's diseaseMartin Reincke, Silviu Sbiera, Akira Hayakawa, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Pageof 51