Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Alexander Hoischen

Showing results (211-220 of 249) with videos related to

Pageof 25
Sort By:
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, et al.
Journal of Clinical Immunology|January 17, 2024
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel DiseaseSam J Olyha, Shannon K O'Connor, Marat Kribis, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesisCharlotte W Ockeloen, Kriti D Khandelwal, Karoline Dreesen, et al.
Pageof 25

Showing results (211-220 of 249) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, et al.
Journal of Clinical Immunology|January 17, 2024
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel DiseaseSam J Olyha, Shannon K O'Connor, Marat Kribis, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.
American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesisCharlotte W Ockeloen, Kriti D Khandelwal, Karoline Dreesen, et al.
Pageof 25