Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Annette Feigenbaum

Showing results (11-20 of 68) with videos related to

Pageof 7
Sort By:
Neurology|November 3, 2017
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesiaJennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, et al.
Molecular Genetics and Metabolism|August 2, 2011
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Shailly Jain-Ghai, Sandesh C Sreenath Nagamani, Susan Blaser, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial featuresArie Koifman, Annette Feigenbaum, Weimin Bi, et al.
The Journal of Pediatrics|February 5, 2004
A six-month-old infant with liver steatosisMichael O Stormon, Ernest Cutz, Katryn Furuya, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assayAnnette Feigenbaum, Robert Moore, Joe Clarke, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuriaVenu T Tadiboyina, Anthony Rupar, Paul Atkison, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 27, 2015
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndromeJessie M Cameron, Nevena MacKay, Annette Feigenbaum, et al.
The Laryngoscope|December 6, 2006
Inner ear dysplasia is common in children with Down syndrome (trisomy 21)Susan Blaser, Evan J Propst, Daniel Martin, et al.
Archives of Neurology|May 11, 2005
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeMichelangelo Mancuso, Silvio Ferraris, Jacklyn Pancrudo, et al.
Ophthalmic Genetics|March 18, 2006
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literatureGarfield L Miller, Sohel Somani, Malgorzata J M Nowaczyk, et al.
Pageof 7

Showing results (11-20 of 68) with videos related to

Sort By:
Pageof 7
Neurology|November 3, 2017
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesiaJennifer Friedman, Annette Feigenbaum, Nathaniel Chuang, et al.
Molecular Genetics and Metabolism|August 2, 2011
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?Shailly Jain-Ghai, Sandesh C Sreenath Nagamani, Susan Blaser, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial featuresArie Koifman, Annette Feigenbaum, Weimin Bi, et al.
The Journal of Pediatrics|February 5, 2004
A six-month-old infant with liver steatosisMichael O Stormon, Ernest Cutz, Katryn Furuya, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assayAnnette Feigenbaum, Robert Moore, Joe Clarke, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuriaVenu T Tadiboyina, Anthony Rupar, Paul Atkison, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 27, 2015
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndromeJessie M Cameron, Nevena MacKay, Annette Feigenbaum, et al.
The Laryngoscope|December 6, 2006
Inner ear dysplasia is common in children with Down syndrome (trisomy 21)Susan Blaser, Evan J Propst, Daniel Martin, et al.
Archives of Neurology|May 11, 2005
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeMichelangelo Mancuso, Silvio Ferraris, Jacklyn Pancrudo, et al.
Ophthalmic Genetics|March 18, 2006
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literatureGarfield L Miller, Sohel Somani, Malgorzata J M Nowaczyk, et al.
Pageof 7