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American Journal of Medical Genetics|March 21, 1998
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11BR C Michaelis, G V Velagaleti, C Jones, et al.American Journal of Medical Genetics|March 21, 1998
Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another familyR Pallotta, P Fusilli, G Sabatino, et al.American Journal of Medical Genetics|March 7, 1998
Evidence for major genetic control of wheeze in relation to history of respiratory allergy: Humboldt family studyY Chen, D C Rennie, L A Lockinger, et al.American Journal of Medical Genetics|March 7, 1998
Dyskeratosis congenita with linear areas of severe cutaneous involvementE Baselga, B A Drolet, P van Tuinen, et al.American Journal of Medical Genetics|March 7, 1998
Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and GoutièresD Kumar, C Rittey, A H Cameron, et al.American Journal of Medical Genetics|March 7, 1998
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)M E Hodes, A Hadjisavvas, I J Butler, et al.American Journal of Medical Genetics|March 1, 1993
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestationsJ K Hartsfield, B D Hall, A W Grix, et al.American Journal of Medical Genetics|March 1, 1993
Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiencyM I Shevell, N Matiaszuk, F D Ledley, et al.American Journal of Medical Genetics|April 15, 1993
Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomaliesD J Aughton, A A AlSaadi, J A Johnson, et al.American Journal of Medical Genetics|April 1, 1993
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individualsJ Clayton-SmithPageof 854