نتایج جستجو برای: fryns
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Neurodegenerative diseases comprise both hereditary and sporadic conditions characterized by an identifying progressive nervous system dysfunction and distinctive neuopathophysiology. The majority are of non-familial etiology and hence environmental factors and lifestyle play key roles in their pathogenesis. The extensive use of and ever increasing worldwide demand for electricity has stimulate...
Received 4 May 1995 Accepted for publication 1 June 1995 Abstract We describe a girl ofPakistani origin, born to consanguineous parents, with a multiple congenital anomaly (MCA) syndrome. This is the second report confirming an apparently new autosomal recessive syndrome reported earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include characteristic facies with blephar...
Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle progression. Also known as Mi2β, CHD4 is an integral subunit of a well-characterized histone deacetylase complex. Here we report five individuals with de novo missense substitutions in CHD4 identified through whole-exome s...
The TanDEM-X mission is a German dual satellite formation with the task to acquire a global digital elevation model (DEM) by bistatic interferometric synthetic aperture radar (SAR) data takes. Therefore the two satellites are kept in a close helixformation with a distance of less than 1 km. In order to reach the intended DEM accuracy, the baseline vector between the two spacecraft needs to be d...
| Abstract + References | PDF (2414 K)Cabral, J.A., McChesney, J.D. and Milhous, W.K., 1993. A new antimalarial quassinoid from Simaba guianesis. Journal of Natural Products 56 11, pp. 1954–1961. Abstract-EMBASE | Abstract-Elsevier BIOBASE | Abstract-MEDLINE | Order Document | Full Text via CrossRefDewit, 1960. Spermatophytes. Flore du Congo Belge et du Ruanda-Urundi, 9, 538. Gilbert, G...
Idiopathic nephrotic syndrome, although a rare disease, is the most common primary glomerular disease among children. It causes substantial morbidity because it typically runs a relapsing course punctuated with prolonged periods of corticosteroids and other immunosuppressive medication. It affects about 2 children per 100,000 aged ,16 years in Europe and North America, with higher rates reporte...
Introduction Harry Angelman, an English pediatrician, reported three cases of “Puppet Children” in 1965 (Angelman, 1965). These individuals displayed severe intellectual disability, ataxia, absent speech, jerky arm movements and bouts of inappropriate laughter. More cases were described as “Happy Puppet” syndrome (Bower and Jeavons, 1967), and additional consensus diagnostic criteria for what i...
Several researchers have looked for an association between fragile X (FRAXA) syndrome and dizygotic (DZ) twinning. Fryns [1986] reported a 4-fold increase in twinning in a study of 134 obligate FRAXA carriers, while Turner et al. [1994] noted a twinning rate of one in 11 in 253 carriers of the FRAXA premutation. On the other hand, Sherman et al. [1988] found no excess of twins in fragile X pedi...
EDITOR—Cases with pure short arm deletion of chromosome 2 are rare. Among these cases chromosomal deletions within the region 2p21 to 2p23 have been associated with holoprosencephaly. Five cases with multiple anomalies, including microcephaly, have been reported to have more distal deletions within the region 2p23 to 2pter. Four cases have been reported with more proximal deletions involving se...
Increasing numbers of adults with profound intellectual and multiple disabilities (PIMD) are being offered more – and more frequent – day services at activity centres. Little is known about the way direct support persons (DSP) in activity centres divide their time over the various tasks they have to perform and to what extent they are focused on adults with PIMD. Given their functional disabili...
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