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Alexander Hoischen

Showing results (221-230 of 249) with videos related to

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American Journal of Human Genetics|April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsAnneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.
American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Human Genetics|August 9, 2020
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
The New England Journal of Medicine|June 15, 2026
Clinical Long-Read Genome Sequencing for Rare-Disease DiagnosticsTessa J J de Bitter, Bart van der Sanden, Lydia Sagath, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Pageof 25

Showing results (221-230 of 249) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|April 15, 2014
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsAnneke T Vulto-van Silfhout, Shivakumar Rajamanickam, Philip J Jensik, et al.
American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Human Genetics|August 9, 2020
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
The New England Journal of Medicine|June 15, 2026
Clinical Long-Read Genome Sequencing for Rare-Disease DiagnosticsTessa J J de Bitter, Bart van der Sanden, Lydia Sagath, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Pageof 25