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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.Kidney International. Supplement|June 1, 1993
Worldwide demographic aspects of chronic renal failure in childrenR Gusmano, F PerfumoHuman 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.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|February 20, 2002
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasiaN Kölble, D Sobetzko, J Ersch, et al.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.Pageof 31