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Alexander Hoischen

Showing results (191-200 of 249) with videos related to

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Elife|October 17, 2022
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort studyAnne Hebert, Annet Simons, Janneke H M Schuurs-Hoeijmakers, et al.
Nature Medicine|November 23, 2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy lossRick Essers, Igor N Lebedev, Ants Kurg, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosisIsabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Clinical Chemistry|December 16, 2016
BRCA Testing by Single-Molecule Molecular Inversion ProbesKornelia Neveling, Arjen R Mensenkamp, Ronny Derks, et al.
Molecular Genetics & Genomic Medicine|December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scoresNina Ishorst, Leonie Henschel, Frederic Thieme, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
The Journal of Experimental Medicine|September 29, 2023
TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell toleranceElif Çakan, Marie Dominique Ah Kioon, Yolanda Garcia-Carmona, et al.
Pageof 25

Showing results (191-200 of 249) with videos related to

Sort By:
Pageof 25
Elife|October 17, 2022
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort studyAnne Hebert, Annet Simons, Janneke H M Schuurs-Hoeijmakers, et al.
Nature Medicine|November 23, 2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy lossRick Essers, Igor N Lebedev, Ants Kurg, et al.
Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosisIsabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Clinical Chemistry|December 16, 2016
BRCA Testing by Single-Molecule Molecular Inversion ProbesKornelia Neveling, Arjen R Mensenkamp, Ronny Derks, et al.
Molecular Genetics & Genomic Medicine|December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scoresNina Ishorst, Leonie Henschel, Frederic Thieme, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
The Journal of Experimental Medicine|September 29, 2023
TLR9 ligand sequestration by chemokine CXCL4 negatively affects central B cell toleranceElif Çakan, Marie Dominique Ah Kioon, Yolanda Garcia-Carmona, et al.
Pageof 25