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Mark H Lipson

Showing results (1-10 of 6) with videos related to

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Seminars in Fetal & Neonatal Medicine|June 2, 2005
Common neonatal syndromesMark H Lipson
Journal of Human Genetics|October 21, 2011
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysisGanka V Douglas, Joanna Wiszniewska, Mark H Lipson, et al.
American Journal of Medical Genetics. Part A|September 3, 2021
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndromeElizabeth A VanSickle, Julianne Michael, André S Bachmann, et al.
Molecular Genetics and Metabolism|June 5, 2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne L Arnold, Denise Salazar, Julie A Neidich, et al.
The Journal of Pediatrics|March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled studyFriedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Seminars in Fetal & Neonatal Medicine|June 2, 2005
Common neonatal syndromesMark H Lipson
Journal of Human Genetics|October 21, 2011
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysisGanka V Douglas, Joanna Wiszniewska, Mark H Lipson, et al.
American Journal of Medical Genetics. Part A|September 3, 2021
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndromeElizabeth A VanSickle, Julianne Michael, André S Bachmann, et al.
Molecular Genetics and Metabolism|June 5, 2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne L Arnold, Denise Salazar, Julie A Neidich, et al.
The Journal of Pediatrics|March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled studyFriedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Pageof 1