Showing results (131-140 of 220) with videos related to
Sort By:
Pageof 22
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 29, 1996
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cellsV Agmon, R Khosravi, S Marchesini, et al.Journal of Inherited Metabolic Disease|July 12, 2008
Neurocognitive testing in late-onset Tay-Sachs disease: a pilot studyD Elstein, G M Doniger, E Simon, et al.Development (Cambridge, England)|October 6, 1997
Functional differences among Xenopus nodal-related genes in left-right axis determinationK Sampath, A M Cheng, A Frisch, et al.Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.Prenatal Diagnosis|July 1, 1995
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniquesR Navon, V Timmerman, A Löfgren, et al.British Journal of Obstetrics and Gynaecology|November 1, 1977
A survey of amniocentesis in 925 patients at high risk of fetal genetic disorderB Goldman, S Mashiah, D M Serr, et al.American Journal of Human Genetics|August 1, 1994
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequencyJ B Sherman, N Raben, C Nicastri, et al.Chemistry and Physics of Lipids|August 8, 1994
Sulforhodamine GM1-ganglioside: synthesis and physicochemical propertiesS Marchesini, L Demasi, P Cestone, et al.Archives of Pathology & Laboratory Medicine|March 1, 1980
Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patientG Messer, S Harel, B Erlich, et al.American Journal of Medical Genetics|December 1, 1986
Magnetic resonance spectroscopy of normal and diseased musclesB Chance, D P Younkin, R Kelley, et al.Pageof 22