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1 . Academic Journal
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
저자
by
Baer, Sarah
;
Schalk, Audrey
;
Miguet, Marguerite
;
Schaefer, Élise
;
El Chehadeh, Salima
, et al.
소스
In
Pediatric Neurology
October 2024 159:16-25
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7 . 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
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
저자
by
Blackburn, Patrick R.
;
Ebstein, Frédéric
;
Hsieh, Tzung‐Chien
;
Motta, Marialetizia
;
Radio, Francesca Clementina
, et al.
소스
Annals of Neurology
. Sep2024, p1. 14p. 4 Illustrations.
Full Text (Wiley)
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7 . Academic Journal
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory
저자
by
Passemard, Sandrine
;
Verloes, Alain
;
Billette de Villemeur, Thierry
;
Boespflug-Tanguy, Odile
;
Hernandez, Karen
, et al.
소스
In
Cortex
January 2016 74:158-176
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7 . Academic Journal
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
저자
by
Paulet, Alix
;
Bennett-Ness, Cavan
;
Ageorges, Faustine
;
Trost, Detlef
;
Green, Andrew
, et al.
소스
European Journal of Human Genetics
. 32(9):1144-1149
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7 . Academic Journal
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
저자
by
Busiah, Kanetee
;
Drunat, Séverine
;
Vaivre-Douret, Laurence
;
Bonnefond, Amélie
;
Simon, Albane
, et al.
소스
In
The Lancet Diabetes & Endocrinology
November 2013 1(3):199-207
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7 . Academic Journal
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome
저자
by
Marx, David
;
Dupuis, Arnaud
;
Eckly, Anita
;
Molitor, Anne
;
Olagne, Jérôme
, et al.
소스
In
Blood Advances
27 September 2022 6(18):5279-5284
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7 . Periodical
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study
저자
by
Paulet, Alix
;
Bennett-Ness, Cavan
;
Ageorges, Faustine
;
Trost, Detlef
;
Green, Andrew
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p
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7 . Academic Journal
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
저자
by
Schütz, Katharina
;
Schmidt, Axel
;
Schwerk, Nicolaus
;
Renz, Diane Miriam
;
Gerard, Benedicte
, et al.
소스
Pediatric Pulmonology; Nov2023, Vol. 58 Issue 11, p3095-3105, 11p
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7 . Academic Journal
Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)
저자
by
Lamy, Florian
;
Valenti-Hirsch, Maria-Paola
;
Gauer, Lucas
;
Gérard, Bénédicte
;
Obeid, Mohamed
, et al.
소스
In
Epilepsy & Behavior Reports
2022 19
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