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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.
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.
European Journal of Medical Genetics|April 28, 2024
Mother and daughter with Kenny-Caffey syndrome: the adult phenotypeL Tonelli, M Sanchini, A Margutti, et al.
Clinical Genetics|August 31, 1999
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasiaA Mégarbané, F A Haddad, S Haddad-Zebouni, et al.
American Journal of Medical Genetics|October 21, 1998
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1B A Bejjani, K C Oberg, I Wilkins, et al.
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