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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.Familial Cancer|October 11, 2019
A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literatureM D Aydemirli, K van der Tuin, F J Hes, 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.Epilepsy Research|November 21, 2007
Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complexK Boer, F Jansen, M Nellist, et al.British Journal of Cancer|February 19, 2004
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expressionL B Koppert, A W van der Velden, M van de Wetering, 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.Pageof 2