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Enzyme|January 1, 1984
Galactosemia: how does long-term treatment change the outcome?R Gitzelmann, B SteinmannHuman Mutation|August 3, 2000
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assaysC Giunta, B SteinmannAmerican Journal of Medical Genetics|December 22, 1999
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?C Giunta, B SteinmannHelvetica Paediatrica Acta|September 1, 1981
The diagnosis of hereditary fructose intoleranceB Steinmann, R GitzelmannAktuelle Gerontologie|December 1, 1978
[The heart of the old hemiplegic patient (author's transl)]B Steinmann, E KunzThe American Journal of Pathology|February 13, 2001
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcificationF Rutsch, S Vaingankar, K Johnson, et al.Clinical Chemistry|September 25, 2001
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specificR Fingerhut, W Röschinger, A C Muntau, et al.Proceedings of the Association of American Physicians|May 1, 1996
Gaucher disease: four families with previously undescribed mutationsE Beutler, T Gelbart, D Balicki, et al.Journal of Inherited Metabolic Disease|August 13, 1998
Diagnosis and management of glutaric aciduria type II Barić, J Zschocke, E Christensen, et al.Genetic Counseling (Geneva, Switzerland)|March 23, 2007
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and reviewL Garavelli, S Pedori, R Dal Zotto, et al.Pageof 25