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Barry Wolf

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

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The Journal of Pediatrics|March 27, 2007
Hearing loss in biotinidase deficiency: genotype-phenotype correlationHatice Serap Kalkanoğlu Sivri, Gülsüm Aydan Genç, Ayşegül Tokatli, et al.
Human Mutation|March 19, 2005
Biotinidase deficiency: novel mutations and their biochemical and clinical correlatesBarry Wolf, Kevin P Jensen, Bruce Barshop, et al.
American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, 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.
The Journal of Pediatrics|March 27, 2007
Hearing loss in biotinidase deficiency: genotype-phenotype correlationHatice Serap Kalkanoğlu Sivri, Gülsüm Aydan Genç, Ayşegül Tokatli, et al.
Human Mutation|March 19, 2005
Biotinidase deficiency: novel mutations and their biochemical and clinical correlatesBarry Wolf, Kevin P Jensen, Bruce Barshop, et al.
American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Human Genetics|March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresSureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.
Pageof 5