Showing results (161-170 of 172) with videos related to
Sort By:
Pageof 18
The Journal of Pediatrics|September 17, 1998
Costello syndrome: phenotype, natural history, differential diagnosis, and possible causeJ P Johnson, M Golabi, M E Norton, et al.Hormone Research|December 5, 1998
Hypercalcemia in malignant paraganglioma due to parathyroid hormone-related proteinK Loh, K K Matthay, M Hoover, et al.Nature Genetics|August 1, 1996
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndromeK A Przylepa, W Paznekas, M Zhang, et al.American Journal of Medical Genetics|July 16, 1999
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritanceM del Campo, B D Hall, A Aeby, et al.American Journal of Medical Genetics|May 2, 1997
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalitiesC A Moore, H V Toriello, D N Abuelo, et al.Human Molecular Genetics|April 4, 2001
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombinationL Y Brown, S Odent, V David, et al.American Journal of Medical Genetics|April 6, 1999
Acromelic frontonasal dysostosisS F Slaney, F R Goodman, B L Eilers-Walsman, et al.Molecular Vision|May 13, 2010
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literatureM S Al-Dosari, M Almazyad, L Al-Ebdi, et al.American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.American Journal of Medical Genetics|December 23, 1999
Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and reviewE K Pivnick, B Angle, R A Kaufman, et al.Pageof 18