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21 .
Haploinsufficiency of the Primary Familial Brain Calcification Gene
SLC20A2
Mediated by Disruption of a Regulatory Element
저자
by
Christel Thauvin-Robinet
;
Benoit Delpont
;
Anne Boland
;
Robert Olaso
;
Thierry Frebourg
, et al.
소스
Movement Disorders
. 35:1336-1345
Full Text (Wiley)
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27 .
Exome sequencing identifies the first genetic determinants of sirenomelia in humans
저자
by
Marianne Begorre
;
Daniel Cailliez
;
Claire Beneteau
;
Pierre Chenal
;
Thierry Frebourg
, et al.
소스
Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
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27 .
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
저자
by
Sebastien Moutton
;
Martin Chevarin
;
Nada Houcinat
;
Sophie Nambot
;
Yannis Duffourd
, et al.
소스
Human Genetics, 139(11), 1381-1390. Springer-Verlag
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27 .
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
저자
by
Sebastien Moutton
;
Antonio Vitobello
;
Laurence Faivre
;
Christophe Philippe
;
Christel Thauvin-Robinet
, et al.
소스
Genetics in Medicine
. 21:2504-2511
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27 .
Author response for 'Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18'
저자
by
Nawale Hadouiri
;
Marie-Gabrielle Mourot De Rougemont
;
Olivier Blanchard
;
Yannis Duffourd
;
Christel Thauvin-Robinet
, et al.
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27 .
Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine
저자
by
Sophie Coutant
;
Armelle Luscan
;
Quentin Fort
;
Nicolas Soirat
;
Abdoulaye Hama Diallo
, et al.
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27 .
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
저자
by
Juliette Coursimault
;
Alice Goldenberg
;
Gaël Nicolas
;
Pascale Saugier-Veber
;
Sophie Coutant
, et al.
소스
European Journal of Medical Genetics
. 65:104556
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27 .
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
저자
by
Kimiyo Raymond
;
Sarah Snanoudj
;
Anne-Marie Guerrot
;
François Lecoquierre
;
Sophie Coutant
, et al.
소스
Life, Vol 11, Iss 187, p 187 (2021)
Life
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27 .
iDe novo/icoding variants in theiAGO1/igene cause a neurodevelopmental disorder with intellectual disability
저자
by
Audrey Schalk
;
Margot A Cousin
;
Nikita R Dsouza
;
Thomas D Challman
;
Karen E Wain
, et al.
소스
Journal of medical genetics
Journal of medical genetics, 2021, ⟨10.1136/jmedgenet-2021-107751⟩
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27 .
Homozygous
TRAPPC11
truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
저자
by
Antonio Vitobello
;
Marie-Gabrielle Mourot De Rougemont
;
Stéphanie Perez-Martin
;
Véronique Darmency
;
Laurence Faivre
, et al.
소스
Clinical Genetics
. 100:643-644
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