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1 . Academic Journal
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
저자
by
de Masfrand, Servane
;
Cogné, Benjamin
;
Nizon, Mathilde
;
Deb, Wallid
;
Goldenberg, Alice
, et al.
소스
In
European Journal of Medical Genetics
June 2024 69
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7 . Academic Journal
MAST1-related mega-corpus-callosum syndrome with central hypogonadism
저자
by
Sloboda, Natacha
;
Renard, Emeline
;
Lambert, Laetitia
;
Bonnet, Céline
;
Leheup, Bruno
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
저자
by
Arnaud, Lionel
;
Abi Warde, Marie-Thérèse
;
Barcia, Giulia
;
de Bellescize, Julitta
;
Chatron, Nicolas
, et al.
소스
In
European Journal of Medical Genetics
March 2022 65(3)
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7 . Academic Journal
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
저자
by
Vera, Gabriella
;
Sorlin, Arthur
;
Delplancq, Geoffroy
;
Lecoquierre, François
;
Brasseur-Daudruy, Marie
, et al.
소스
In
European Journal of Medical Genetics
October 2020 63(10)
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7 . Academic Journal
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
저자
by
Balak, Chris
;
Benard, Marianne
;
Schaefer, Elise
;
Iqbal, Sumaiya
;
Ramsey, Keri
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):509-525
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7 . Academic Journal
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
저자
by
Wirth, Thomas
;
Roze, Emmanuel
;
Delvallée, Clarisse
;
Trouillard, Oriane
;
Drouot, Nathalie
, et al.
소스
Movement Disorders
. May2024, Vol. 39 Issue 5, p897-905. 9p.
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7 . Academic Journal
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
저자
by
Wirth, Thomas
;
Bonnet, Céline
;
Delvallée, Clarisse
;
Pellerin, David
;
Bogdan, Thomas
, et al.
소스
Journal of Neurology
. Apr2024, Vol. 271 Issue 4, p2078-2085. 8p.
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7 . Academic Journal
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder
저자
by
Quartier, Angélique
;
Chatrousse, Laure
;
Redin, Claire
;
Keime, Céline
;
Haumesser, Nicolas
, et al.
소스
In
Biological Psychiatry
15 August 2018 84(4):239-252
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7 . Academic Journal
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
저자
by
Montagne, Louise
;
Derhourhi, Mehdi
;
Piton, Amélie
;
Toussaint, Bénédicte
;
Durand, Emmanuelle
, et al.
소스
In
Molecular Metabolism
July 2018 13:1-9
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7 . Academic Journal
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
저자
by
van der Laan, Liselot
;
Lauffer, Peter
;
Rooney, Kathleen
;
Silva, Ananília
;
Haghshenas, Sadegheh
, et al.
소스
In
Human Genetics and Genomics Advances
18 July 2024 5(3)
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