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Alexander Hoischen

Showing results (181-190 of 249) with videos related to

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Nature Genetics|May 5, 2015
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancerRobbert D A Weren, Marjolijn J L Ligtenberg, C Marleen Kets, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
Iscience|January 17, 2022
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19Nikhil Shri Sahajpal, Chi-Yu Jill Lai, Alex Hastie, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Annals of the Rheumatic Diseases|March 2, 2020
Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of goutViola Klück, Rosanne C van Deuren, Giulio Cavalli, et al.
American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.
Pageof 25

Showing results (181-190 of 249) with videos related to

Sort By:
Pageof 25
Nature Genetics|May 5, 2015
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancerRobbert D A Weren, Marjolijn J L Ligtenberg, C Marleen Kets, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
Iscience|January 17, 2022
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19Nikhil Shri Sahajpal, Chi-Yu Jill Lai, Alex Hastie, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Annals of the Rheumatic Diseases|March 2, 2020
Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of goutViola Klück, Rosanne C van Deuren, Giulio Cavalli, et al.
American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.
Pageof 25