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European Journal of Medical Genetics|October 24, 2006
Tall stature and duplication of the insulin-like growth factor I receptor geneS G Kant, M Kriek, M J E Walenkamp, et al.Journal of Medical Genetics|July 1, 1997
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3S G Kant, A Van Haeringen, E Bakker, et al.Hormone Research in Paediatrics|May 11, 2012
IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature)Janina Caliebe, Sander Broekman, Merel Boogaard, et al.European Journal of Pediatrics|January 1, 2017
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndromeM C van Rij, M L Grijsen, N M Appelman-Dijkstra, et al.The Journal of Clinical Endocrinology and Metabolism|June 8, 2006
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptorM J E Walenkamp, H J van der Kamp, A M Pereira, 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.Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.Familial Cancer|October 24, 2003
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive casesY M C Hendriks, J T C M Verhallen, J J van der Smagt, et al.Journal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.Journal of Dental Research|April 25, 2025
Splicing Defects and Cell Death Cause <i>SF3B2</i>-Linked Craniofacial MicrosomiaS Rao, K E N Watt, L Maili, et al.Pageof 3