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Karin Weiss

Showing results (31-40 of 59) with videos related to

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European Journal of Endocrinology|March 5, 2026
Pseudohypoxia and Family History Are Key Predictors of Severe Outcomes in Hereditary Pheochromocytoma and Paraganglioma SyndromesReut Halperin, Gili Reznick-Levi, Ayat Khalaileh, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
Journal of Human Genetics|May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric functionNadra Samra, Shir Toubiana, Hilde Yttervik, et al.
Journal of Hepatology|June 25, 2017
Human germline hedgehog pathway mutations predispose to fatty liverMaria J Guillen-Sacoto, Ariel F Martinez, Yu Abe, et al.
Human Molecular Genetics|December 8, 2025
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndromeOr Givol, Ido S Han, Francesco Cecere, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|February 5, 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variantsGili Reznick Levi, Yael Goldberg, Hanna Segev, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
Pageof 6

Showing results (31-40 of 59) with videos related to

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Pageof 6
European Journal of Endocrinology|March 5, 2026
Pseudohypoxia and Family History Are Key Predictors of Severe Outcomes in Hereditary Pheochromocytoma and Paraganglioma SyndromesReut Halperin, Gili Reznick-Levi, Ayat Khalaileh, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
Journal of Human Genetics|May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric functionNadra Samra, Shir Toubiana, Hilde Yttervik, et al.
Journal of Hepatology|June 25, 2017
Human germline hedgehog pathway mutations predispose to fatty liverMaria J Guillen-Sacoto, Ariel F Martinez, Yu Abe, et al.
Human Molecular Genetics|December 8, 2025
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndromeOr Givol, Ido S Han, Francesco Cecere, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|February 5, 2023
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variantsGili Reznick Levi, Yael Goldberg, Hanna Segev, et al.
Journal of Medical Genetics|July 17, 2023
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropeniaNadra Samra, Nicolette S Jansen, Ilham Morani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
Pageof 6