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1 . Academic Journal
Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A
저자
by
Jourdy, Yohann
;
Chatron, Nicolas
;
Frétigny, Mathilde
;
Zawadzki, Christophe
;
Lienhart, Anne
, et al.
소스
In
Journal of Thrombosis and Haemostasis
June 2024 22(6):1616-1626
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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
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
저자
by
Cuinat, Silvestre
;
Quélin, Chloé
;
Pasquier, Laurent
;
Loget, Philippe
;
Aussel, Dominique
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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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
Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients
저자
by
Dericquebourg, Amy
;
Fretigny, Mathilde
;
Chatron, Nicolas
;
Tardy, Brigitte
;
Zawadzki, Christophe
, et al.
소스
In
Journal of Thrombosis and Haemostasis
April 2023 21(4):828-837
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7 . Academic Journal
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6
저자
by
Jourdy, Yohann
;
Chatron, Nicolas
;
Fretigny, Mathilde
;
Dericquebourg, Amy
;
Sanlaville, Damien
, et al.
소스
In
Journal of Thrombosis and Haemostasis
October 2022 20(10):2293-2305
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7 . Academic Journal
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists
저자
by
McTague, Amy
;
Brunklaus, Andreas
;
Barcia, Giulia
;
Varadkar, Sophia
;
Zuberi, Sameer M.
, et al.
소스
In
European Journal of Medical Genetics
July 2022 65(7)
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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
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period
저자
by
Garel, Pauline
;
Lesca, Gaetan
;
Ville, Dorothée
;
Poulat, Anne-Lise
;
Chatron, Nicolas
, et al.
소스
In
European Journal of Paediatric Neurology
March 2022 37:98-104
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7 . Academic Journal
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
저자
by
Arnaud, Lionel
;
Abi Warde, Marie-Thérèse
;
Barcia, Giulia
;
de Bellescize, Julitta
;
Chatron, Nicolas
, et al.
소스
In
European Journal of Medical Genetics
March 2022 65(3)
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