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American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girlO Cogulu, C Gunduz, E Karaca, et al.American Journal of Medical Genetics|March 4, 2000
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individualD Sobetzko, G Eich, M Kalff-Suske, et al.American Journal of Medical Genetics. Part A|April 11, 2003
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomiaM Di Rocco, G Stella, C Bruno, et al.Helvetica Paediatrica Acta|August 1, 1988
Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrheaU A Hunziker, A Superti-Furga, M Zachmann, et al.Human Genetics|October 28, 1997
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCRS Kleinle, U Wiesmann, A Superti-Furga, et al.Klinische Padiatrie|May 14, 2009
Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) IIK N Walter, M Erlacher, M Uhl, et al.Clinical Genetics|July 12, 2008
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf, I Gassner, A Superti-Furga, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|December 16, 1998
[Critical evaluation of growth hormone treatment in children with chronic renal insufficiency]F Perfumo, R GusmanoEuropean Journal of Pediatrics|April 1, 1996
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasiaF Berthet, C A Siegrist, H Ozsahin, et al.Pageof 31