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Molecular Genetics and Metabolism|March 18, 2000
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotypeP J Waters, M A Parniak, B R Akerman, et al.Molecular Genetics and Metabolism|April 18, 2000
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemiaC N Sarkissian, D M Boulais, J D McDonald, et al.Pediatrics|June 1, 1983
A perimortem protocol for suspected genetic diseaseJ B Kronick, C R Scriver, P R Goodyer, et al.Genetic Counseling (Geneva, Switzerland)|January 1, 1990
Fertility in couples heterozygous for the tyrosinemia gene in Saguenay Lac-St-JeanM De Braekeleer, V Lamarre, C R Scriver, et al.Pediatric Neurology|May 1, 1994
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatinM Sylvain, D L Arnold, C R Scriver, et al.Genetic Epidemiology|January 1, 1992
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic JewsM J Fernandes, F Kaplan, C L Clow, et al.Prenatal Diagnosis|July 1, 1997
Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experienceK Sasi, D Sanderson, P Eydoux, et al.American Journal of Public Health|December 1, 1982
Prevention of mental retardation in offspring of hyperphenylalaninemic mothersL Cartier, C L Clow, A Lippman-Hand, et al.Human Pathology|November 1, 1994
Interpretation of large intestinal mucosal biopsy specimensH GoldmanPageof 129