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1 . Academic Journal
Severe Phenotype in Patients with Large Deletions of NF1
저자
by
Laurence Pacot
;
Dominique Vidaud
;
Audrey Sabbagh
;
Ingrid Laurendeau
;
Audrey Briand-Suleau
, et al.
소스
Cancers, Vol 13, Iss 12, p 2963 (2021)
Open Access (DOAJ)
Web of Science
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7 .
Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up
저자
by
Florence Rigaudière
;
Manuel Schiff
;
Eliane Delouvrier
;
Hala Nasser
;
Paolo Milani
.
소스
Documenta Ophthalmologica
. 144:53-65
Web of Science
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7 .
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
저자
by
Jessica Assoumani
;
Morgane Plutino
;
Caroline Benech
;
Nathalie Marle
;
Houda Karmous-Benailly
, et al.
소스
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
Open Access (OpenAIRE)
Scopus
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7 .
Author response for 'EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder'
저자
by
Odile Boute
;
Lyse Ruaud
;
Aafke Engwerda
;
Anne-Claude Tabet
;
Lionel Van Maldergem
, et al.
소스
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7 .
Early identification of epileptic encephalopathy with continuous spikes-and-waves during sleep: A case-control study
저자
by
Camille Desprairies
;
Stéphane Auvin
;
Hala Nasser
;
Adina Ilea
;
Blandine Dozières-Puyravel
, et al.
소스
European Journal of Paediatric Neurology
. 22:837-844
Full Text (Clinical Key)
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7 .
Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report
저자
by
Stéphane Auvin
;
Elisa Lopez-Hernandez
;
Samia Pichard-Oumlil
;
Florence Rigaudière
;
Hala Nasser
, et al.
소스
Documenta ophthalmologica. Advances in ophthalmology
. 143(1)
Scopus
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7 .
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
저자
by
Edouard Hirsch
;
Anne de Saint Martin
;
Cyril Mignot
;
Julia Scholly
;
Boris Keren
, et al.
소스
European Journal of Human Genetics
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0641-9⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0641-9⟩
Open Access (OpenAIRE)
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7 .
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
저자
by
Anita Rauch
;
Nathalie Pouvreau
;
Séverine Drunat
;
Yves Alembik
;
Anais Ernault
, et al.
소스
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106474. ⟨10.1136/jmedgenet-2019-106474⟩
Full Text (BMJ Journals)
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7 .
Felbamate for infantile spasms syndrome resistant to first-line treatments
저자
by
Vanina Bellavoine
;
Hala Nasser
;
Stéphane Auvin
;
Adina Ilea
;
Blandine Dozières-Puyravel
, et al.
소스
Developmental medicine and child neurologyReferences
. 62(5)
Scopus
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7 .
Myoclonic jerks are commonly associated with absence seizures in early-onset absence epilepsy
저자
by
Neli Le Morvan
;
Vanina Bellavoine
;
Stéphane Auvin
;
Catherine Delanoë
;
Elisa Lopez-Hernandez
, et al.
소스
Epileptic Disorders
. 19:137-146
Web of Science
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