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Alexander Hoischen

Showing results (201-210 of 249) with videos related to

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Human Mutation|August 10, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsGijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, et al.
HGG Advances|June 30, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19Jannik Boos, Caspar I van der Made, Gayatri Ramakrishnan, et al.
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Gastroenterology|January 12, 2026
Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal PolyposisAnna K Sommer, Iris B A W Te Paske, Erik A M Jansen, et al.
JCI Insight|October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumorsGhada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.
American Journal of Human Genetics|July 9, 2016
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaNikhita Ajit Bolar, Christelle Golzio, Martina Živná, et al.
Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics|January 7, 2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Pageof 25

Showing results (201-210 of 249) with videos related to

Sort By:
Pageof 25
Human Mutation|August 10, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsGijs W E Santen, Emmelien Aten, Anneke T Vulto-van Silfhout, et al.
HGG Advances|June 30, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19Jannik Boos, Caspar I van der Made, Gayatri Ramakrishnan, et al.
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Gastroenterology|January 12, 2026
Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal PolyposisAnna K Sommer, Iris B A W Te Paske, Erik A M Jansen, et al.
JCI Insight|October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumorsGhada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.
American Journal of Human Genetics|July 9, 2016
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaNikhita Ajit Bolar, Christelle Golzio, Martina Živná, et al.
Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics|January 7, 2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Pageof 25