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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.
The Journal of Biological Chemistry|March 15, 1991
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IVH Vissing, M D'Alessio, B Lee, 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.
European Journal of Pediatrics|March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasiaA Superti-Furga, G Eich, H U Bucher, et al.
Praxis|August 23, 2008
[Pain of the musculoskeletal system of unknown origin in immigrants. Vitamin D3 deficiency caused by insufficient exposure of the skin to sunlight]Ch Zwisler, A Steiner, St Fehr, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 20, 1998
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate productionA Rossi, I Kaitila, W R Wilcox, et al.
European 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.
American Journal of Human Genetics|February 1, 1996
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasiasJ Hästbacka, A Superti-Furga, W R Wilcox, et al.
Human Genetics|February 24, 2001
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndromeR Santer, M Kinner, M Passarge, et al.
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