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Holger Prokisch

Showing results (331-340 of 370) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Nature Genetics|January 4, 2022
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic functionJohann S Hawe, Rory Wilson, Katharina T Schmid, et al.
Aging|July 23, 2020
Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individualsElena Colicino, Riccardo Marioni, Cavin Ward-Caviness, et al.
Nature Genetics|June 4, 2013
High-density genotyping study identifies four new susceptibility loci for atopic dermatitisDavid Ellinghaus, Hansjörg Baurecht, Jorge Esparza-Gordillo, et al.
The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Plos Genetics|June 9, 2009
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrationsMelanie Kolz, Toby Johnson, Serena Sanna, et al.
Plos Genetics|July 23, 2011
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1Juliane Winkelmann, Darina Czamara, Barbara Schormair, et al.
Pageof 37

Showing results (331-340 of 370) with videos related to

Sort By:
Pageof 37
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Nature Genetics|January 4, 2022
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic functionJohann S Hawe, Rory Wilson, Katharina T Schmid, et al.
Aging|July 23, 2020
Blood DNA methylation sites predict death risk in a longitudinal study of 12, 300 individualsElena Colicino, Riccardo Marioni, Cavin Ward-Caviness, et al.
Nature Genetics|June 4, 2013
High-density genotyping study identifies four new susceptibility loci for atopic dermatitisDavid Ellinghaus, Hansjörg Baurecht, Jorge Esparza-Gordillo, et al.
The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
Plos Genetics|June 9, 2009
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrationsMelanie Kolz, Toby Johnson, Serena Sanna, et al.
Plos Genetics|July 23, 2011
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1Juliane Winkelmann, Darina Czamara, Barbara Schormair, et al.
Pageof 37