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Holger Rehmann

Showing results (71-80 of 77) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Treatment of ARS deficiencies with specific amino acidsGautam Kok, Laura Tseng, Imre F Schene, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Nature Genetics|July 2, 2021
Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patternsYannik Bollen, Ellen Stelloo, Petra van Leenen, et al.
Journal of the American Society of Nephrology : JASN|October 5, 2021
mTOR-Activating Mutations in <i>RRAGD</i> Are Causative for Kidney Tubulopathy and CardiomyopathyKarl P Schlingmann, François Jouret, Kuang Shen, et al.
Human Molecular Genetics|September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayLynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Pageof 8

Showing results (71-80 of 77) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 77 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2021
Treatment of ARS deficiencies with specific amino acidsGautam Kok, Laura Tseng, Imre F Schene, et al.
American Journal of Human Genetics|January 7, 2023
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegenerationIrena J J Muffels, Imre F Schene, Holger Rehmann, et al.
Nature Genetics|July 2, 2021
Reconstructing single-cell karyotype alterations in colorectal cancer identifies punctuated and gradual diversification patternsYannik Bollen, Ellen Stelloo, Petra van Leenen, et al.
Journal of the American Society of Nephrology : JASN|October 5, 2021
mTOR-Activating Mutations in <i>RRAGD</i> Are Causative for Kidney Tubulopathy and CardiomyopathyKarl P Schlingmann, François Jouret, Kuang Shen, et al.
Human Molecular Genetics|September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayLynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Pageof 8