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Dan Geiger

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

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American Journal of Human Genetics|September 9, 2006
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, 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.
Orphanet Journal of Rare Diseases|March 17, 2018
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotypeAdel Shalata, Mohammad Mahroom, Dianna M Milewicz, et al.
International Journal of Cardiology|December 10, 2013
Titin mutation in familial restrictive cardiomyopathyYael Peled, Michael Gramlich, Guy Yoskovitz, et al.
American Journal of Human Genetics|April 29, 2008
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesisJanna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, et al.
Journal of Medical Genetics|June 22, 2012
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesisYifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, et al.
The New England Journal of Medicine|June 29, 2017
Loss of CD55 in Eculizumab-Responsive Protein-Losing EnteropathyAlina Kurolap, Orly Eshach-Adiv, Tova Hershkovitz, et al.
The Journal of Investigative Dermatology|March 23, 2012
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgarisOfer Sarig, Sivan Bercovici, Lilach Zoller, et al.
Brain : a Journal of Neurology|December 24, 2016
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathyTzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Pageof 4

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

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 40 results.
American Journal of Human Genetics|September 9, 2006
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, 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.
Orphanet Journal of Rare Diseases|March 17, 2018
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotypeAdel Shalata, Mohammad Mahroom, Dianna M Milewicz, et al.
International Journal of Cardiology|December 10, 2013
Titin mutation in familial restrictive cardiomyopathyYael Peled, Michael Gramlich, Guy Yoskovitz, et al.
American Journal of Human Genetics|April 29, 2008
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesisJanna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, et al.
Journal of Medical Genetics|June 22, 2012
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesisYifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, et al.
The New England Journal of Medicine|June 29, 2017
Loss of CD55 in Eculizumab-Responsive Protein-Losing EnteropathyAlina Kurolap, Orly Eshach-Adiv, Tova Hershkovitz, et al.
The Journal of Investigative Dermatology|March 23, 2012
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgarisOfer Sarig, Sivan Bercovici, Lilach Zoller, et al.
Brain : a Journal of Neurology|December 24, 2016
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathyTzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, et al.
Blood|August 17, 2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pMeral Gunay-Aygun, Yifat Zivony-Elboum, Fatma Gumruk, et al.
Pageof 4