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Human Genetics|May 26, 1998
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type IM Schwartz, E Christensen, A Superti-Furga, et al.
The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.
Genomics|August 1, 1993
Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin)A Superti-Furga, M Rocchi, B W Schäfer, et al.
Nephron|January 1, 1993
Hypercalciuria and nephrocalcinosis, a feature of Wilson's diseaseB Hoppe, T Neuhaus, A Superti-Furga, et al.
The Journal of Biological Chemistry|March 15, 1991
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.
Hamostaseologie|May 1, 2009
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiencyIna Hainmann, J Oldenburg, A Pavlova, et al.
Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.
Clinical Genetics|June 7, 2003
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageL Bonafé, C Giunta, M Gassner, et al.
Clinical Genetics|April 10, 2002
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsL Bonafé, K Schmitt, G Eich, et al.
European Journal of Pediatrics|December 14, 1999
The painful hip: evaluation of criteria for clinical decision-makingG F Eich, A Superti-Furga, F S Umbricht, et al.
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