About: Salima Djebbar El Chehadeh

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About: Salima Djebbar El Chehadeh Goto Sponge NotDistinct Permalink

An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Djebbar El Chehadeh, Salima (1980-....)
alternative label	Djebbar, Salima El Chehadeh, Salima
Life Event	http://www.idref.fr/140165673/birth
preferred label	Djebbar El Chehadeh, Salima (1980-....)
name	Salima Djebbar El Chehadeh
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Salima
familyName	Djebbar El Chehadeh
has biographical i...tion (Deprecated)	Docteur en médecine (Dijon, 2010)
gender	female
org:hasMembership	http://www.idref.fr/140165673/affiliation/2 http://www.idref.fr/140165673/affiliation/1
org:memberOf	Université de Strasbourg (2009-....) Institut de génétique et de biologie moléculaire et cellulaire (Strasbourg)
Scopus ID	35236805900
is sameAs of	Djebbar El Chehadeh, Salima (1980-....) Djebbar El Chehadeh, Salima (1980-....) Djebbar El Chehadeh, Salima (1980-....)
is Thesis advisor of	http://www.sudoc.fr/21989048X/id
is Author of	http://www.sudoc.fr/140166106/id Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature https://serval.unil.ch/notice/serval:BIB_7C85AAC15298#id Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 Severe X-linked chondrodysplasia punctata in nine new female fetuses https://serval.unil.ch/notice/serval:BIB_08C9E1B19BCA#id Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature http://www.sudoc.fr/276312562/id 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome Heterozygous deletion of the LRFN2 gene is associated with working memory deficits Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features https://orbi.uliege.be/handle/2268/161734#id
is primary topic of	http://www.idref.fr/140165673

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