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1 . Academic Journal
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
저자
by
Hong Joo Kim
;
Payam Mohassel
;
Sandra Donkervoort
;
Lin Guo
;
Kevin O’Donovan
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
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7 . Academic Journal
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
저자
by
Lydie Burglen
;
Evelien Van Hoeymissen
;
Leila Qebibo
;
Magalie Barth
;
Newell Belnap
, et al.
소스
eLife, Vol 12 (2023)
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7 . Academic Journal
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
저자
by
Aashish Sethi
;
Nicola Foulds
;
Sarah Ehtisham
;
Syed Haris Ahmed
;
Jayne Houghton
, et al.
소스
JCRPE, Vol 12, Iss 4, Pp 420-426 (2020)
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7 . Academic Journal
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
저자
by
William J Tapper
;
Nicola Foulds
;
Nicholas C P Cross
;
Paula Aranaz
;
Joannah Score
, et al.
소스
PLoS ONE, Vol 9, Iss 1, p e86940 (2014)
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7 .
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
저자
by
Evelien Van Hoeymissen
;
Lydie Burglen
;
Leila Qebibo
;
Magalie Barth
;
Newell Belnap
, et al.
소스
eLife
. 12
Open Access (OpenAIRE)
Scopus
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7 .
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
저자
by
Siren Berland
;
Andreas Benneche
;
Andrew E. Fry
;
Kate Chandler
;
Julie Paulsen
, et al.
소스
Eur J Hum Genet
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7 .
Author response: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
저자
by
Evelien Van Hoeymissen
;
Lydie Burglen
;
Leila Qebibo
;
Magalie Barth
;
Newell Belnap
, et al.
소스
Open Access (OpenAIRE)
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7 .
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
저자
by
Sayaka Kayumi
;
Luis A. Pérez-Jurado
;
María Palomares
;
Sneha Rangu
;
Sarah E. Sheppard
, et al.
소스
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
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Scopus
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7 .
Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 2, risks of adverse outcome in common anomalies
저자
by
Anthony R Hart
;
Nicola Foulds
;
Sally Boxall
;
Brigitte Vollmer
;
Patricia de Lacy
, et al.
소스
Developmental Medicine & Child Neurology
. 64:23-39
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7 .
Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 1, experiences and recommendations for service design
저자
by
Patricia de Lacy
;
Nicola Foulds
;
David T. Howe
;
Chakra Vasudevan
;
Paul D. Griffiths
, et al.
소스
Developmental Medicine & Child Neurology
. 64:14-22
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