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Journal of Medical Genetics|June 1, 1989
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable associationK D MacDermot, M A Patton, M J Williams, et al.Clinical Dysmorphology|April 1, 1996
Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney: a new recessive multiple congenital anomaly (MCA) syndrome?I H Ellis, C Yale, R Thomas, et al.Journal of Medical Genetics|November 1, 1989
Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic featuresL A Brueton, J C Barber, S M Huson, et al.Journal of Medical Genetics|October 1, 1984
The femoral hypoplasia-unusual facies syndromeJ Burn, R M Winter, M Baraitser, et al.Neuropediatrics|December 19, 2003
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literatureM Rossi, R Guerrini, W B Dobyns, et al.Neuropediatrics|February 1, 1994
Disordered peripheral nerve conduction in DOOR(S) syndromeW Reardon, S Boyd, M C Pitt, et al.Journal of Medical Genetics|April 1, 1996
The dysmorphic human-mouse homology database (DHMHD): an interactive World-Wide Web resource for gene mappingC D Evans, A G Searle, A A Schinzel, et al.Clinical Dysmorphology|April 1, 1996
Serpentine fibula syndrome: expansion of the phenotype with three affected siblingsE M Rosser, N P Mann, C M Hall, et al.Human Molecular Genetics|August 1, 1997
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic casesC S Rose, P Patel, W Reardon, et al.American Journal of Medical Genetics|January 1, 1987
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patientsM A Patton, S Krywawych, R M Winter, et al.Pageof 19