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Nature Genetics|March 30, 2001
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1R M Costa, T Yang, D P Huynh, et al.American Journal of Human Genetics|July 1, 1996
Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locusS M Purandare, R Cawthon, L M Nelson, et al.Journal of Child Neurology|October 1, 1994
Atelencephalic aprosencephalyC P Harris, J J Townsend, M G Norman, et al.American Journal of Medical Genetics|June 28, 1996
Aprosencephaly and cerebellar dysgenesis in sibsS R Florell, J J Townsend, E C Klatt, et al.Biochemistry|July 25, 1989
Primary structure and androgen regulation of a 20-kilodalton protein specific to rat ventral prostateK C Ho, R Snoek, V Quarmby, et al.American Journal of Medical Genetics|November 14, 2000
Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?E E Adderson, D H Viskochil, J C Carey, et al.Human Molecular Genetics|March 1, 1995
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndromeU Schell, A Hehr, G J Feldman, et al.Journal of Medical Genetics|October 15, 2016
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the <i>ERF</i> geneM Balasubramanian, H Lord, S Levesque, et al.Clinical Genetics|January 6, 2011
Bone resorption in syndromes of the Ras/MAPK pathwayD A Stevenson, E L Schwarz, J C Carey, et al.American Journal of Medical Genetics|June 9, 1999
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1D A Stevenson, P H Birch, J M Friedman, et al.Pageof 3