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1 . Academic Journal
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
저자
by
Kalm, Tassja
;
Schob, Claudia
;
Völler, Hanna
;
Gardeitchik, Thatjana
;
Gilissen, Christian
, et al.
소스
In
The American Journal of Human Genetics
6 June 2024 111(6):1206-1221
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7 . Academic Journal
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
저자
by
Sabbagh, Quentin
;
Haghshenas, Sadegheh
;
Piard, Juliette
;
Trouvé, Chloé
;
Amiel, Jeanne
, et al.
소스
In
Genetics in Medicine
January 2024 26(1)
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7 . Academic Journal
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
저자
by
Caron, Véronique
;
Chassaing, Nicolas
;
Ragge, Nicola
;
Boschann, Felix
;
Ngu, Angelina My-Hoa
, et al.
소스
In
Genetics in Medicine
August 2023 25(8)
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7 . Academic Journal
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
저자
by
Bogaert, Elke
;
Garde, Aurore
;
Gautier, Thierry
;
Rooney, Kathleen
;
Duffourd, Yannis
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):790-808
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix
저자
by
Hendrickx, Gretl
;
Boudin, Eveline
;
Steenackers, Ellen
;
Collet, Corinne
;
Mortier, Geert R.
, et al.
소스
In
Bone
February 2023 167
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7 . Academic Journal
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1
저자
by
Sabbagh, Quentin
;
Alkar, Fanny
;
Patte, Karine
;
Prodhomme, Olivier
;
Janel, Caroline
, et al.
소스
In
European Journal of Medical Genetics
June 2022 65(6)
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7 . Academic Journal
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
저자
by
Rouxel, Flavien
;
Relator, Raissa
;
Kerkhof, Jennifer
;
McConkey, Haley
;
Levy, Michael
, et al.
소스
In
Genetics in Medicine
May 2022 24(5):1096-1107
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7 . Academic Journal
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study
저자
by
Roux-Levy, Pierre-Henri
;
Sanlaville, Damien
;
De Freminville, Bénédicte
;
Touraine, Renaud
;
Masurel, Alice
, et al.
소스
In
European Journal of Medical Genetics
October 2021 64(10)
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7 . Academic Journal
Association between prenatal and perinatal factors and the severity of clinical presentation of children with ASD: Report from the ELENA COHORT
저자
by
Traver, Sabine
;
Geoffray, Marie-Maude
;
Mazières, Lucile
;
Geneviève, David
;
Michelon, Cécile
, et al.
소스
In
Journal of Psychiatric Research
May 2021 137:634-642
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