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21 . Academic Journal
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.
저자
by
Le Van Quyen, Pauline
;
Calmels, Nadège
;
Bonnière, Maryse
;
Chartier, Suzanne
;
Razavi, Féréchté
, et al.
소스
American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p1236-1242, 7p
Web of Science
Scopus
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27 . Periodical
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20missense variant versus a 3q13.31 microdeletion including ZBTB20
저자
by
Juven, Aurélien
;
Nambot, Sophie
;
Piton, Amélie
;
Jean-Marçais, Nolwenn
;
Masurel, Alice
, et al.
소스
European Journal of Human Genetics: EJHG; August 2020, Vol. 28 Issue: 8 p1044-1055, 12p
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27 . Periodical
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5haploinsufficiency
저자
by
Zawerton, Ash
;
Mignot, Cyril
;
Sigafoos, Ashley
;
Blackburn, Patrick R.
;
Haseeb, Abdul
, et al.
소스
Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p524-537, 14p
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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27 . Periodical
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
저자
by
Chevarin, Martin
;
Duffourd, Yannis
;
A. Barnard, Rebecca
;
Moutton, Sébastien
;
Lecoquierre, Francois
, et al.
소스
Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 7 p466-474, 9p
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27 . Periodical
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
저자
by
Sekiguchi, Futoshi
;
Tsurusaki, Yoshinori
;
Okamoto, Nobuhiko
;
Teik, Keng Wee
;
Mizuno, Seiji
, et al.
소스
Journal of Human Genetics; December 2019, Vol. 64 Issue: 12 p1173-1186, 14p
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27 .
Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
저자
by
Maillard, Pierre‐yves
;
Baer, Sarah
;
Schaefer, Élise
;
Desnous, Béatrice
;
Villeneuve, Nathalie
, et al.
소스
Epilepsia
Epilepsia, In press, 63 (10), pp.2519-2533. ⟨10.1111/epi.17336⟩
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27 . Periodical
De novo mutations in MSL3cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
저자
by
Basilicata, M. Felicia
;
Bruel, Ange-Line
;
Semplicio, Giuseppe
;
Valsecchi, Claudia Isabelle Keller
;
Aktas, Tugçe
, et al.
소스
Nature Genetics; October 2018, Vol. 50 Issue: 10 p1442-1451, 10p
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27 . Academic Journal
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
저자
by
Legendre, Marine
;
Abadie, Véronique
;
Attié‐Bitach, Tania
;
Philip, Nicole
;
Busa, Tiffany
, et al.
소스
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
. Dec 01, 2017 175(4):417-430
Web of Science
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27 . Academic Journal
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
저자
by
Juven, Aurélien
;
Nambot, Sophie
;
Piton, Amélie
;
Jean-Marçais, Nolwenn
;
Masurel, Alice
, et al.
소스
European Journal of Human Genetics
. 28(8):1044-1055
Web of Science
Scopus
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27 . Academic Journal
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
저자
by
Gauthier‐Vasserot, Alexandra
;
Thauvin‐Robinet, Christel
;
Bruel, Ange‐Line
;
Duffourd, Yannis
;
St‐Onge, Judith
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2017, Vol. 173 Issue 1, p62-71, 10p
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