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1 . Academic Journal
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
저자
by
Yang, Fang
;
Begemann, Anais
;
Reichhart, Nadine
;
Haeckel, Akvile
;
Steindl, Katharina
, et al.
소스
In
The American Journal of Human Genetics
6 June 2024 111(6):1184-1205
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7 . Academic Journal
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation
저자
by
Buffet, Alexandre
;
Filser, Mathilde
;
Bruel, Alexandra
;
Dard, Rodolphe
;
Quibel, Thibaud
, et al.
소스
In
Genetics in Medicine
July 2024
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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
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia
저자
by
Moortgat, Stéphanie
;
Lederer, Damien
;
Deprez, Marie
;
Buzatu, Marga
;
Clapuyt, Philippe
, et al.
소스
In
European Journal of Medical Genetics
August 2018 61(8):442-450
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7 . Academic Journal
O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
저자
by
Chung, Wendy
;
Ziegler, Alban
;
Koval-Burt, Carrie
;
Kay, Denise
;
Suchy, Sharon
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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7 . Academic Journal
Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.
저자
by
Wittrien, Theresa
;
Ziegler, Alban
;
Rühle, Anne
;
Stomberg, Svenja
;
Meyer, Ruben
, et al.
소스
European Journal of Endocrinology
. Apr2024, Vol. 190 Issue 4, p266-274. 9p.
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7 . Academic Journal
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation
저자
by
Kauskot, Alexandre
;
Mallebranche, Coralie
;
Bruneel, Arnaud
;
Fenaille, François
;
Solarz, Jean
, et al.
소스
In
Journal of Thrombosis and Haemostasis
November 2023 21(11):3268-3278
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7 . Academic Journal
Caregiver‐reported dental manifestations in individuals with genetic neurodevelopmental disorders.
저자
by
Ming, Neil R.
;
Noble, Deanna
;
Chussid, Steven
;
Ziegler, Alban
;
Chung, Wendy K.
.
소스
International Journal of Paediatric Dentistry; Mar2024, Vol. 34 Issue 2, p145-152, 8p
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7 . Academic Journal
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
저자
by
Sobering, Andrew K.
;
Bryant, Laura M.
;
Li, Dong
;
McGaughran, Julie
;
Maystadt, Isabelle
, et al.
소스
In
Human Genetics and Genomics Advances
12 January 2023 4(1)
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7 . Academic Journal
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
저자
by
Ziegler, Alban
;
Steindl, Katharina
;
Hanner, Ashleigh S.
;
Kar, Rajesh Kumar
;
Prouteau, Clément
, et al.
소스
In
The American Journal of Human Genetics
4 August 2022 109(8):1549-1558
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