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Holger Prokisch

Showing results (231-240 of 395) with videos related to

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Clinical Epigenetics|December 28, 2018
Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarctionCavin K Ward-Caviness, Golareh Agha, Brian H Chen, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Epigenetics & Chromatin|October 27, 2015
Characterization of whole-genome autosomal differences of DNA methylation between men and womenPaula Singmann, Doron Shem-Tov, Simone Wahl, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omicsUgo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
Pageof 40

Showing results (231-240 of 395) with videos related to

Sort By:
Pageof 40
Clinical Epigenetics|December 28, 2018
Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarctionCavin K Ward-Caviness, Golareh Agha, Brian H Chen, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Epigenetics & Chromatin|October 27, 2015
Characterization of whole-genome autosomal differences of DNA methylation between men and womenPaula Singmann, Doron Shem-Tov, Simone Wahl, et al.
Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omicsUgo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
Pageof 40