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The 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.
American Journal of Medical Genetics|July 23, 1998
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2V Cormier-Daire, A Superti-Furga, A Munnich, et al.
Pediatric Research|October 1, 1975
Persistent and transient distal renal tubular acidosis with bicarbonate wastingE P Leumann, B Steinmann
Schweizerische Medizinische Wochenschrift|May 26, 1979
[Catamnestic studies in hemiplegics]S Hasler-Kündig, B Steinmann
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