| human | Q5 |
| P268 | Bibliothèque nationale de France ID | 14455438f |
| P5552 | CNRS Talent page | jameleddine-chelly |
| P973 | described at URL | https://comihistocnrs.hypotheses.org/2706 |
| https://www.cnrs.fr/fr/personne/jameleddine-chelly | ||
| P9371 | FranceArchives agent ID | 301322115 |
| P2671 | Google Knowledge Graph ID | /g/11b66jc58q |
| P269 | IdRef ID | 068664346 |
| P213 | ISNI | 0000000001081560 |
| P496 | ORCID iD | 0000-0002-0939-8719 |
| P214 | VIAF ID | 54370024 |
| P166 | award received | Scientific Grand Prize of the NRJ Fondation | Q27530629 |
| CNRS silver medal | Q3332287 | ||
| CNRS bronze medal | Q3332320 | ||
| P27 | country of citizenship | Tunisia | Q948 |
| P185 | doctoral student | Nadia Bahi-Buisson | Q30322447 |
| Karine Poirier | Q30322450 | ||
| Pierre Billuart | Q42317159 | ||
| P69 | educated at | University of Sfax | Q540341 |
| P735 | given name | Jamel | Q16796264 |
| Jamel | Q16796264 | ||
| P106 | occupation | physician | Q39631 |
| researcher | Q1650915 | ||
| geneticist | Q3126128 | ||
| P21 | sex or gender | male | Q6581097 |
| Q24336512 | A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα |
| Q28566329 | A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia |
| Q29031951 | A shape analysis framework for neuromorphometry |
| Q24613870 | A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation |
| Q57387330 | ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia |
| Q28215614 | ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation |
| Q28506471 | Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2 |
| Q89137725 | Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders |
| Q28301198 | Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown |
| Q28257639 | CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy |
| Q36354683 | Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study |
| Q60453001 | Correction to: The landscape of epilepsy-related GATOR1 variants |
| Q91827367 | Correction: The landscape of epilepsy-related GATOR1 variants |
| Q90516112 | De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder |
| Q29147426 | De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy |
| Q47189755 | Defining the phenotypic spectrum of SLC6A1 mutations |
| Q30496275 | Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway |
| Q24292830 | Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation |
| Q27301028 | Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus |
| Q24292446 | FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation |
| Q31033723 | Human disorders of cortical development: from past to present |
| Q35030967 | Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. |
| Q24303911 | IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis |
| Q28293847 | Key clinical features to identify girls with CDKL5 mutations |
| Q28240924 | Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized |
| Q43804873 | Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. |
| Q51770514 | Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. |
| Q36221916 | Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis |
| Q27329518 | Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes |
| Q28386102 | Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability |
| Q24298230 | Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human |
| Q51318832 | Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. |
| Q24534092 | Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation |
| Q24530632 | Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation |
| Q24532155 | Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation |
| Q24313546 | Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria |
| Q28292823 | Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects |
| Q28186625 | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation |
| Q24299324 | Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly |
| Q28584324 | Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons |
| Q34242488 | Next generation sequencing for molecular diagnosis of neuromuscular diseases. |
| Q34205119 | Nonsyndromic X-linked mental retardation: where are the missing mutations? |
| Q28302378 | Novel JARID1C/SMCX mutations in patients with X-linked mental retardation |
| Q92653507 | Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment |
| Q112700464 | Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development |
| Q92681347 | Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation |
| Q27324376 | Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome |
| Q64057214 | TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis |
| Q28587383 | The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain |
| Q56344652 | The landscape of epilepsy-related GATOR1 variants |
| Q24561792 | Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency |
| Q51756710 | Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. |
| Q28251358 | Variants in CUL4B are associated with cerebral malformations |
| Q46865198 | WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. |
| Q57588282 | X-linked congenital ataxia: A new locus maps to Xq25-q27.1 |
| Q24534259 | X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family |
| Q30997373 | X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family |
| Q24339372 | ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity |
| Arabic (ar / Q13955) | جمال الشلي | wikipedia |
| Jamel Chelly | wikipedia |
Search more.