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Thomas Haaf

Showing results (161-170 of 190) with videos related to

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BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.
Clinical Epigenetics|December 18, 2019
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulationLarissa Haertle, Tobias Müller, Roy Lardenoije, et al.
Journal of Child Psychology and Psychiatry, and Allied Disciplines|February 23, 2017
SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorderSören Merker, Andreas Reif, Georg C Ziegler, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Genes|November 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani FamiliesJulia Doll, Barbara Vona, Linda Schnapp, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
Clinical Epigenetics|April 2, 2026
Promoter hypomethylation drives ABCB1-mediated carfilzomib resistance in multiple myelomaSeungbin Han, Larissa Haertle, Umair Munawar, et al.
Blood|June 11, 2021
Cereblon enhancer methylation and IMiD resistance in multiple myelomaLarissa Haertle, Santiago Barrio, Umair Munawar, et al.
Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.
Pageof 19

Showing results (161-170 of 190) with videos related to

Sort By:
Pageof 19
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.
Clinical Epigenetics|December 18, 2019
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulationLarissa Haertle, Tobias Müller, Roy Lardenoije, et al.
Journal of Child Psychology and Psychiatry, and Allied Disciplines|February 23, 2017
SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorderSören Merker, Andreas Reif, Georg C Ziegler, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Genes|November 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani FamiliesJulia Doll, Barbara Vona, Linda Schnapp, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
Clinical Epigenetics|April 2, 2026
Promoter hypomethylation drives ABCB1-mediated carfilzomib resistance in multiple myelomaSeungbin Han, Larissa Haertle, Umair Munawar, et al.
Blood|June 11, 2021
Cereblon enhancer methylation and IMiD resistance in multiple myelomaLarissa Haertle, Santiago Barrio, Umair Munawar, et al.
Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.
Pageof 19