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Mia Horowitz

Showing results (41-50 of 46) with videos related to

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Journal of Clinical Medicine|September 12, 2019
<i>Drosophila melanogaster</i> Mutated in its <i>GBA1b</i> Ortholog Recapitulates Neuronopathic Gaucher DiseaseOr Cabasso, Sumit Paul, Orly Dorot, et al.
International Journal of Molecular Sciences|July 13, 2024
<i>GBA1</i>-Associated Parkinson's Disease Is a Distinct EntityAliaksandr Skrahin, Mia Horowitz, Majdolen Istaiti, et al.
American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.
American Journal of Human Genetics|July 31, 2012
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationOfer Sarig, Sagi Nahum, Debora Rapaport, et al.
American Journal of Human Genetics|July 28, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeLina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, et al.
Nature Genetics|August 27, 2013
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wastingLiat Samuelov, Ofer Sarig, Robert M Harmon, et al.
Pageof 5

Showing results (41-50 of 46) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
Journal of Clinical Medicine|September 12, 2019
<i>Drosophila melanogaster</i> Mutated in its <i>GBA1b</i> Ortholog Recapitulates Neuronopathic Gaucher DiseaseOr Cabasso, Sumit Paul, Orly Dorot, et al.
International Journal of Molecular Sciences|July 13, 2024
<i>GBA1</i>-Associated Parkinson's Disease Is a Distinct EntityAliaksandr Skrahin, Mia Horowitz, Majdolen Istaiti, et al.
American Journal of Human Genetics|June 22, 2005
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaEli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, et al.
American Journal of Human Genetics|July 31, 2012
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationOfer Sarig, Sagi Nahum, Debora Rapaport, et al.
American Journal of Human Genetics|July 28, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeLina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, et al.
Nature Genetics|August 27, 2013
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wastingLiat Samuelov, Ofer Sarig, Robert M Harmon, et al.
Pageof 5