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American Journal of Human Genetics|November 1, 1975
Kniest syndrome with dominant inheritance and mucopolysacchariduriaH J Kim, N G Beratis, P Brill, et al.Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 1, 1990
Ocular histopathology and ultrastructure of Morquio syndrome (systemic mucopolysaccharidosis IV A)M Iwamoto, Y Nawa, I H Maumenee, et al.Acta Paediatrica Japonica : Overseas Edition|April 1, 1996
Gene therapy for metachromatic leukodystrophyT Ohashi, K Watabe, Y Sato, et al.European Journal of Pediatrics|July 1, 1996
Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994R Koch, H Levy, W Hanley, et al.Molecular Genetics and Metabolism Reports|October 20, 2025
Carbonic anhydrase VA deficiency due to a novel <i>CA5A</i> variantLaura Keehan, Elizabeth Null, Lekha Chilakamarri, et al.Pediatrics|December 1, 1984
Biopterin synthesis defects: problems in diagnosisG Hoganson, S Berlow, S Kaufman, et al.American Journal of Medical Genetics. Part A|January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variantJose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.The Journal of Pediatrics|January 15, 2000
Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomesB Rouse, R Matalon, R Koch, et al.Journal of Inherited Metabolic Disease|January 1, 1990
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and CanadaR Koch, W Hanley, H Levy, et al.European Journal of Pediatrics|July 1, 1996
The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary reportW B Hanley, R Koch, H L Levy, et al.Pageof 12