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Alexander Hoischen

Showing results (131-140 of 249) with videos related to

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Annals of Neurology|December 3, 2019
Identification of Restless Legs Syndrome Genes by Mutational Load AnalysisErik Tilch, Barbara Schormair, Chen Zhao, et al.
The New England Journal of Medicine|July 1, 2011
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasisFrank L van de Veerdonk, Theo S Plantinga, Alexander Hoischen, et al.
Cancers|July 27, 2022
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL)Anna Puiggros, Silvia Ramos-Campoy, Joanna Kamaso, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
The Journal of Pathology|July 7, 2021
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumorsMariangela Sabatella, Tuomo Mantere, Esmé Waanders, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
Genome Research|March 4, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approachesMerel Stemerdink, Tabea Riepe, Nick Zomer, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
Human Mutation|May 18, 2021
Extending the allelic spectrum at noncoding risk loci of orofacial cleftingFrederic Thieme, Leonie Henschel, Nigel L Hammond, et al.
Pageof 25

Showing results (131-140 of 249) with videos related to

Sort By:
Pageof 25
Annals of Neurology|December 3, 2019
Identification of Restless Legs Syndrome Genes by Mutational Load AnalysisErik Tilch, Barbara Schormair, Chen Zhao, et al.
The New England Journal of Medicine|July 1, 2011
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasisFrank L van de Veerdonk, Theo S Plantinga, Alexander Hoischen, et al.
Cancers|July 27, 2022
Optical Genome Mapping: A Promising New Tool to Assess Genomic Complexity in Chronic Lymphocytic Leukemia (CLL)Anna Puiggros, Silvia Ramos-Campoy, Joanna Kamaso, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
The Journal of Pathology|July 7, 2021
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumorsMariangela Sabatella, Tuomo Mantere, Esmé Waanders, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
Genome Research|March 4, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approachesMerel Stemerdink, Tabea Riepe, Nick Zomer, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
Human Mutation|May 18, 2021
Extending the allelic spectrum at noncoding risk loci of orofacial cleftingFrederic Thieme, Leonie Henschel, Nigel L Hammond, et al.
Pageof 25