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American Journal of Medical Genetics. Part A|May 16, 2003
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patientsM I Kavamura, M Zollino, R Lecce, et al.American Journal of Medical Genetics|October 1, 1990
GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the olderA Wajntal, C P Koiffmann, B B Mendonça, et al.American Journal of Medical Genetics|May 2, 1997
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalitiesC A Moore, H V Toriello, D N Abuelo, et al.Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.Cell|March 7, 1998
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling proteinJ G Gleeson, K M Allen, J W Fox, et al.Thymus|August 1, 1981
The cerebro-hepato-renal syndrome of Zellweger: similarity to and differentiation from the DiGeorge syndromeR Hong, S D Horowitz, M F Borzy, et al.Teratology|August 1, 1975
The role of beta-adrenergic activity in the production of cardiac and aortic arch anomalies in chick embryosR J Hodach, A E Hodach, J F Fallon, et al.Birth Defects Original Article Series|January 1, 1987
Management of the fetus with urinary tract dilatationR Laxova, L E Biesecker, R O Friday, et al.Birth Defects Original Article Series|January 1, 1977
The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemiaC H Gonzalez, M V Durkin-Stamm, N F Geimer, et al.Neurology|August 1, 2007
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicusR Guerrini, F Moro, M Kato, et al.Pageof 40