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Neurologia (Barcelona, Spain)|September 16, 2006
[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation]I Pascual-Castroviejo, S I Pascual-Pascual, R Velazquez, et al.
Nederlands Tijdschrift Voor Geneeskunde|February 1, 2002
[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]C M A van Ravenswaaij-Arts, A M W van den Ouweland, A J M Hoogeboom, et al.
European Journal of Medical Genetics|December 28, 2005
Hyperechogenic fetal bowel: counseling difficultiesD Marcus-Soekarman, J Offermans, A M W Van den Ouweland, et al.
Clinical Genetics|May 10, 2013
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the NetherlandsR van Minkelen, Y van Bever, J N R Kromosoeto, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1M E P van den Elzen, S R F Twigg, J A C Goos, et al.
Genetic Testing|October 18, 2005
Large deletion at the TSC1 locus in a family with tuberous sclerosis complexM Nellist, O Sancak, M A Goedbloed, et al.
European Journal of Endocrinology|August 13, 2015
The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defectsS H Donze, C R Meijer, S G Kant, et al.
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