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Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation
Mutations in the human sonic hedgehog gene ( SHH) are the most frequent cause of autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage… Expand
Benign childhood epilepsy with centrotemporal spikes and the focal sharp wave trait is not linked to the fragile X region.
- M. Rees, U. Diebold, K. Parker, H. Doose, R. Gardiner, W. Whitehouse
- 1 August 1993
Benign childhood epilepsy with centrotemporal spikes (BCECS, benign rolandic epilepsy) is a common form of genetically determined localisation-related epilepsy of childhood. The characteristic… Expand
Benign Childhood Epilepsy with Centrotemporal Spikes and Electroencephalography Trait are Not Linked to EBN1 and EBN2 of Benign Neonatal Familial Convulsions
- B. Neubauer, H. Moises, U. Lässker, S. Waltz, U. Diebold, U. Stephani
- Psychology, Medicine
- 1 July 1997
Summary: Purpose: The electroencephalographic hallmark of benign childhood epilepsy with centrotemporal spikes (BECTS, or rolandic epilepsy) are characteristically shaped centrotemporal spikes and… Expand
Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.
- W. Whitehouse, U. Diebold, M. Rees, K. Parker, H. Doose, R. Gardiner
- 1 August 1993
Benign partial epilepsy with centrotemporal sharp waves (benign rolandic epilepsy, BRE) is a common form of idiopathic, localisation-related epilepsy of childhood. The characteristic age-dependent… Expand
Importance of Blood Viscoelasticity in Arteriosclerosis
Corpuscular and biochemical components of blood create the vis coelastic nature of blood flow, which varies because of changes in flow ve locity. The flow properties of blood are of special interest… Expand
[Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)].