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1 . Academic Journal
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature
저자
by
Gianni Cutillo
;
Silvia Masnada
;
Gaetan Lesca
;
Dorothée Ville
;
Patrizia Accorsi
, et al.
소스
Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
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7 . Academic Journal
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R
저자
by
Yonika A. Larasati
;
Gonzalo P. Solis
;
Alexey Koval
;
Silja T. Griffiths
;
Ragnhild Berentsen
, et al.
소스
Cells, Vol 12, Iss 20, p 2469 (2023)
Open Access (DOAJ)
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7 . Academic Journal
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
저자
by
Francesco Miceli
;
Charissa Millevert
;
Maria Virginia Soldovieri
;
Ilaria Mosca
;
Paolo Ambrosino
, et al.
소스
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Full Text (ScienceDirect)
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7 . Academic Journal
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
저자
by
Alice Poisson
;
Nicolas Chatron
;
Audrey Labalme
;
Pierre Fourneret
;
Dorothée Ville
, et al.
소스
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Open Access (BioMed Central)
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7 . Academic Journal
Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study
저자
by
Gianluca D'Onofrio
;
Mathieu Kuchenbuch
;
Caroline Hachon-Le Camus
;
Béatrice Desnous
;
Véronique Staath
, et al.
소스
Frontiers in Neurology, Vol 11 (2020)
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7 . Academic Journal
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
저자
by
Petrus J. de Vries
;
Elena Belousova
;
Mirjana P. Benedik
;
Tom Carter
;
Vincent Cottin
, et al.
소스
Frontiers in Neurology, Vol 11 (2020)
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7 .
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
저자
by
Yoeri Sleyp
;
Irene Valenzuela
;
Andrea Accogli
;
Katleen Ballon
;
Bruria Ben-Zeev
, et al.
소스
Genetics in Medicine
. 24:2464-2474
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7 .
PREDICTING OUTCOME OF CONGENITAL CYTOMEGALOVIRUS INFECTION BY DIFFERENTIATING AND REVISITING SEVERE VERSUS MILD PRENATAL IMAGING FEATURES
저자
by
Mona Massoud
;
Maude Chollet
;
Sara Cabet
;
Marine Butin
;
Yahia Mekki
, et al.
소스
Fetal Diagnosis and Therapy
.
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7 .
The phenotypic spectrum of X‐linked, infantile onset ALG13 ‐related developmental and epileptic encephalopathy
저자
by
Nadia Bahi-Buisson
;
Christian Korff
;
Koen L.I. van Gassen
;
Nathalie Villeneuve
;
Heather C Mefford
, et al.
소스
Epilepsia
Open Access (OpenAIRE)
Web of Science
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7 .
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
저자
by
Lionel Arnaud
;
Marie-Thérèse Abi Warde
;
Giulia Barcia
;
Julitta de Bellescize
;
Nicolas Chatron
, et al.
소스
European Journal of Medical Genetics
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩
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