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Fuki M Hisama

Showing results (11-20 of 80) with videos related to

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Heart (British Cardiac Society)|April 29, 2020
Cardiogenetics: a primer for the clinical cardiologistCatherine M Otto, Jainy J Savla, Fuki M Hisama
Applied Clinical Informatics|March 25, 2021
Searching the PDF Haystack: Automated Knowledge Discovery in Scanned EHR DocumentsAlexander L Kostrinsky-Thomas, Fuki M Hisama, Thomas H Payne
European Journal of Human Genetics : EJHG|January 20, 2012
Clinical utility gene card for: Werner syndromeFuki M Hisama, Christian Kubisch, George M Martin, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
Clinical utility gene card for: Werner Syndrome--Update 2014Fuki M Hisama, Christian Kubisch, George M Martin, et al.
Ophthalmology. Retina|March 21, 2022
The Current State of Genetic Testing Platforms for Inherited Retinal DiseasesDebarshi Mustafi, Fuki M Hisama, Jennifer Huey, et al.
American Journal of Medical Genetics. Part A|August 6, 2008
Synergistic interaction of the OCA2 and OCA3 genes in a familyPei-Wen Chiang, Anne B Fulton, Elaine Spector, et al.
Journal of the Neurological Sciences|July 14, 2009
Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysisCarolin I Dohle, Serguei I Bannykh, Fuki M Hisama, et al.
Neurology|May 29, 2003
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory featuresEvan Fertig, Anne Lincoln, Andrea Martinuzzi, et al.
Muscle & Nerve|August 10, 2019
CNTNAP1 mutations in an adult with Charcot Marie Tooth diseaseAmanda S Freed, Michael D Weiss, Emily A Malouf, et al.
Nature Clinical Practice. Neurology|April 6, 2007
A case of inherited erythromelalgiaSteven P Novella, Fuki M Hisama, Sulayman D Dib-Hajj, et al.
Pageof 8

Showing results (11-20 of 80) with videos related to

Sort By:
Pageof 8
Heart (British Cardiac Society)|April 29, 2020
Cardiogenetics: a primer for the clinical cardiologistCatherine M Otto, Jainy J Savla, Fuki M Hisama
Applied Clinical Informatics|March 25, 2021
Searching the PDF Haystack: Automated Knowledge Discovery in Scanned EHR DocumentsAlexander L Kostrinsky-Thomas, Fuki M Hisama, Thomas H Payne
European Journal of Human Genetics : EJHG|January 20, 2012
Clinical utility gene card for: Werner syndromeFuki M Hisama, Christian Kubisch, George M Martin, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
Clinical utility gene card for: Werner Syndrome--Update 2014Fuki M Hisama, Christian Kubisch, George M Martin, et al.
Ophthalmology. Retina|March 21, 2022
The Current State of Genetic Testing Platforms for Inherited Retinal DiseasesDebarshi Mustafi, Fuki M Hisama, Jennifer Huey, et al.
American Journal of Medical Genetics. Part A|August 6, 2008
Synergistic interaction of the OCA2 and OCA3 genes in a familyPei-Wen Chiang, Anne B Fulton, Elaine Spector, et al.
Journal of the Neurological Sciences|July 14, 2009
Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysisCarolin I Dohle, Serguei I Bannykh, Fuki M Hisama, et al.
Neurology|May 29, 2003
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory featuresEvan Fertig, Anne Lincoln, Andrea Martinuzzi, et al.
Muscle & Nerve|August 10, 2019
CNTNAP1 mutations in an adult with Charcot Marie Tooth diseaseAmanda S Freed, Michael D Weiss, Emily A Malouf, et al.
Nature Clinical Practice. Neurology|April 6, 2007
A case of inherited erythromelalgiaSteven P Novella, Fuki M Hisama, Sulayman D Dib-Hajj, et al.
Pageof 8