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Peter Krawitz

Showing results (81-90 of 101) with videos related to

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Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
JAMA Dermatology|August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 IndividualsF Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Gastroenterology|September 12, 2020
Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal AdenocarcinomaJing Dong, Carlo Maj, Spiridon Tsavachidis, 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.
Human Genomics|January 24, 2026
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
JAMA Dermatology|August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 IndividualsF Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Gastroenterology|September 12, 2020
Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal AdenocarcinomaJing Dong, Carlo Maj, Spiridon Tsavachidis, 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.
Human Genomics|January 24, 2026
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Pageof 11