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Rochelle Hirschhorn

Showing results (1-10 of 4) with videos related to

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Annual Review of Genomics and Human Genetics|February 2, 2017
A Conversation with Kurt and Rochelle HirschhornKurt Hirschhorn, Rochelle Hirschhorn, Joel N Hirschhorn
American Journal of Human Genetics|February 21, 2002
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type IIMaryann L Huie, Kwame Anyane-Yeboa, Edwin Guzman, et al.
Clinical Immunology (Orlando, Fla.)|December 18, 2002
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleteriousHamid Jack Moallem, Gladys Taningo, C K Jiang, et al.
Neuromuscular Disorders : NMD|December 12, 2001
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)Roberto Fernandez-Hojas, Maryann L Huie, Carmen Navarro, et al.
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Showing results (1-10 of 4) with videos related to

Sort By:
Pageof 1
Annual Review of Genomics and Human Genetics|February 2, 2017
A Conversation with Kurt and Rochelle HirschhornKurt Hirschhorn, Rochelle Hirschhorn, Joel N Hirschhorn
American Journal of Human Genetics|February 21, 2002
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type IIMaryann L Huie, Kwame Anyane-Yeboa, Edwin Guzman, et al.
Clinical Immunology (Orlando, Fla.)|December 18, 2002
Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleteriousHamid Jack Moallem, Gladys Taningo, C K Jiang, et al.
Neuromuscular Disorders : NMD|December 12, 2001
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)Roberto Fernandez-Hojas, Maryann L Huie, Carmen Navarro, et al.
Pageof 1