نتایج جستجو برای: cornelia de lange

تعداد نتایج: 1533736  

2009
FX Dehon

Le présent article vise à montrer qu’il n’existe pas d’espace Y dont la cohomologie à coefficients F2 soit la sous-algèbre des invariants de la cohomologie du 2-groupe abélien élémentaire (Z/2) pour l’action canonique du groupe de ses automorphismes Aut((Z/2)) 1 , lorsque n est strictement supérieur à 4. De tels espaces étaient connus pour n = 1, 2, 3; un récent article de Dwyer-Wilkerson en co...

2003
R. SANTOS Klaus Kaiser

A piggyback duality and a translation process between this one and a Priestley duality for each subvariety of involutive Stone algebras and regular o-De Morgan algebras is presented. As a consequence we describe free algebras and the prime spectrum of each subvariety.

2004
Carmen Cristescu Mirela Voicu Carmen Bunu Victor Babes

Consumul de medicamente în cursul sarcinii nu este deloc neglijabil. Între 20-40% dintre femeile gravide necesit\ pe perioada celor nou\ luni de sarcin\ o terapie medicamentoas\, în cursul c\reia terapeutul trebuie s\ ]in\ seama de doi pacien]i: mama [i f\tul. Departe de a juca rolul unei bariere, placenta se las\ u[or traversat\ de medicamente: substan]a medicamentoas\ administrat\ mamei ajung...

2011
Janelle Weaver

Cornelia de Lange syndrome is a rare congenital disorder marked by malformations of many different body parts, including the face, head, heart, and intestines. Most cases are caused by mutations that reduce levels of the Nipped-B-like (NIPBL) protein, whose best known role is to help ensure that chromosomes separate properly during cell division through its interactions with a protein complex c...

2013
Patrick L. Wilson John J. Mulvihill Shibo Li Andrew Wagner

Prenatal diagnosis of Cornelia de Lange syndrome (CDLs) is difficult due to non-specific ultrasound and biochemical findings, normal karyotype, and negative family history. Previous studies suggest that low first and second trimester levels of pregnancy associated plasma protein-A are an indicator for this genetically heterogeneous condition, low levels of this protein can be non-specific. Here...

2017
Saif Mashaqi Jill Hennessy Matthew Eaton Joel Erickson

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders. The prevalence of sleep-relate...

2015
Eanas Bader Alexa R. Shipman

Eponymous conditions are common in medicine, making it an interesting area of study to discover the people responsible for describing diseases and their characteristics. Diseases are not only named after the researcherswho identified thembut sometimes the patients themselves. Eponyms are slowly being dropped from dermatology as improvements in our understanding lead to improvements in nomenclat...

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2007

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 1991

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