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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.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 10, 2025
Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathyR van Heurck, E B Hammar, D Ville, et al.The Journal of Experimental Biology|March 14, 2009
Mechanical and biological consequences of repetitive loading: crack initiation and fatigue failure in the red macroalga MazzaellaKatharine J MachClinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.Clinical Genetics|December 16, 2010
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese populationM Barbosa, A B Sousa, A Medeira, et al.Beitrage Zur Orthopadie Und Traumatologie|April 1, 1990
[The significance of concomitant internal diseases for hip endoprosthesis in elderly patients]J Mach, K KusenackBeitrage Zur Orthopadie Und Traumatologie|January 1, 1990
[Patellar changes following knee joint endoprosthesis-plasty]J Mach, M MeikiesRozhledy V Chirurgii : Mesicnik Ceskoslovenske Chirurgicke Spolecnosti|November 27, 2013
[Lege artis]P Pafko, J MachPageof 19