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European Journal of Pediatrics|January 1, 1993
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNAA Superti-Furga, E Schoenle, P Tuchschmid, 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.
American Journal of Medical Genetics|August 10, 2001
Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsiesD Sobetzko, T Sander, C M Becker
European Journal of Pediatrics|December 24, 2008
Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissueK Felgentreff, W Schupp, J E Otten, et al.
Veterinary Pathology|July 1, 1994
Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiencyR Gitzelmann, N U Bosshard, A Superti-Furga, et al.
Human Genetics|December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasiaA Rossi, H J van der Harten, F A Beemer, et al.
European Journal of Pediatrics|June 1, 1995
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locusD Kotzot, F Bernasconi, L Brecevic, et al.
Journal of Medical Genetics|August 19, 2008
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasiaL Bonafé, J Hästbacka, A de la Chapelle, et al.
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