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Nature Genetics|September 2, 1999
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasiaJ R Hurvitz, W M Suwairi, W Van Hul, et al.
Clinical Genetics|December 1, 1994
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like featuresG Oğur, N Baykan, A De Paepe, et al.
Journal of Medical Genetics|September 13, 2005
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 geneK P Hoornaert, C Dewinter, I Vereecke, et al.
Helvetica Paediatrica Acta|March 1, 1983
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamideA Niederwieser, B Steinmann, U Exner, et al.
Experimental and Molecular Pathology|August 1, 1994
Ultrastructural analysis of skin and aorta from a patient with Menkes diseaseI Pasquali-Ronchetti, M Baccarani-Contri, R D Young, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 6, 2000
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screeningG Caridi, M Dagnino, R Gusmano, et al.
Transplantation Proceedings|April 28, 2004
Preliminary report on impact of pretransplant dialysis on early graft function: peritoneal versus hemodialysisI Fontana, G Santori, F Ginevri, et al.
The Journal of Biological Chemistry|June 25, 1988
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variantD Weil, M Bernard, N Combates, et al.
The Journal of Biological Chemistry|October 5, 1989
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VIID Weil, M D'Alessio, F Ramirez, et al.
Urologia Internationalis|September 27, 2003
Urinary diversion in infants with primary high-grade vesicoureteric reflux, urinary sepsis and renal function impairmentG Mattioli, P Buffa, M Torre, et al.
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