Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)
Conor Gruber, Meredith Ramba, Bineeta Debnath, Lorenzo Cuollo et autres
0 citationsThe Journal of Experimental Medicine
Imen Dorboz
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
71Publications signalées
1643Citations signalées
7Affiliations récentes
Institutions déclarées
Domaines associés
RNA regulation and diseaseRNA Research and SplicingMitochondrial Function and PathologyMetabolism and Genetic DisordersRNA modifications and cancer
Publications récentes
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
Nicole Bertola, Éléonore Blondiaux, Madeleine Harion, Imen Dorboz et autres
1 citationThe American Journal of Human Genetics
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort
L. Menicucci, Agathe Roubertie, Odile Boespflug‐Tanguy, Léna Damaj et autres
1 citationEuropean Journal of Paediatric Neurology
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series
Gaofeng Zhu, Blaise Didry‐Barca, Luís Seabra, Gillian Rice et autres
12 citationsThe Lancet Neurology
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects
Sophie Lebon, Arnaud Bruneel, Séverine Drunat, Alexandra Albert et autres
3 citationsLife Science Alliance
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families
Ichraf Kraoua, Maha Jamoussi, C. Drissi, Lilia Kraoua et autres
1 citationMolecular Genetics & Genomic Medicine
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
Mutaz Amin, Cédric Vignal, Esraa Eltaraifee, Inaam N. Mohammed et autres
10 citationsBMC Medical Genomics
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
Mutaz Amin, Cédric Vignal, Ahlam A. Hamed, Inaam N. Mohammed et autres
5 citationsFrontiers in Genetics
Genetic characterization of hypomyelinating leukodystrophies in the Tunisian cohort
Ichraf Kraoua, Imen Dorboz, Sonia Abdelhak, Odile Boespflug‐Tanguy et autres
0 citationsJournal of the Neurological Sciences
Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria
Xavier Ayrignac, Clarisse Carra‐Dallière, Pekes Codjia, Kévin Mouzat et autres
13 citationsEuropean Journal of Neurology
Novel variants causing megalencephalic leukodystrophy in Sudanese families
Mutaz Amin, Cédric Vignal, Ahlam A. Hamed, Inaam N. Mohammed et autres
8 citationsJournal of Human Genetics
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review
Yosra Bouyacoub, C. Drissi, Ichraf Kraoua, Mariem Chargui et autres
3 citationsNeuropediatrics
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref, OpenAIRE, DOAJ, Europe PMC, HAL, DataCite, ROR et la Banque mondiale, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune donnée externe enregistrée en base. Sources et limites.