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11 . Academic Journal
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
저자
by
Dubourg, Christèle
;
Sanlaville, Damien
;
Doco-Fenzy, Martine
;
Le Caignec, Cédric
;
Missirian, Chantal
, et al.
소스
In
European Journal of Medical Genetics
2011 54(2):144-151
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17 . Academic Journal
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
저자
by
Cordovado, Amélie
;
Schaettin, Martina
;
Jeanne, Médéric
;
Panasenkava, Veranika
;
Denommé-Pichon, Anne-Sophie
, et al.
소스
Human Molecular Genetics; Oct2022, Vol. 31 Issue 19, p3325-3340, 16p
Full Text (OUP)
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17 . Academic Journal
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
저자
by
Engel, Camille
;
Valence, Stéphanie
;
Delplancq, Geoffroy
;
Maroofian, Reza
;
Accogli, Andrea
, et al.
소스
European Journal of Human Genetics
. 31(9):1023-1031
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17 .
Liste des collaborateurs
저자
by
Arveiler, Benoît
;
Auger, Nathalie
;
Bartoli, Marc
;
Becquemont, Laurent
;
Béroud, Christophe
, et al.
소스
In
Génétique médicale
Edition: Second Edition. 2022:xv-xvii
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17 . Academic Journal
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
저자
by
Christensen, Maria B.
;
Levy, Amanda M.
;
Mohammadi, Nazanin A.
;
Niceta, Marcello
;
Kaiyrzhanov, Rauan
, et al.
소스
Clinical Genetics
. Aug2022, Vol. 102 Issue 2, p98-109. 12p.
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17 . Academic Journal
Compilation of published comparative genomic hybridization studies
저자
by
Struski, Stéphanie
;
Doco-Fenzy, Martine
;
Cornillet-Lefebvre, Pascale
.
소스
In
Cancer Genetics and Cytogenetics
2002 135(1):63-90
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15 . Academic Journal
Cytogenetic characterization of chromosomal rearrangement in a human vinblastine-resistant CEM cell line: use of comparative genomic hybridization and fluorescence in situ hybridization
저자
by
Struski, Stephanie
;
Cornillet-Lefebvre, Pascale
;
Doco-Fenzy, Martine
;
Dufer, Jean
;
Ulrich, Evelyne
, et al.
소스
In
Cancer Genetics and Cytogenetics
2002 132(1):51-54
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17 . Academic Journal
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.
저자
by
Salian, Smrithi
;
Scala, Marcello
;
Nguyen, Thi Tuyet Mai
;
Severino, Mariasavina
;
Accogli, Andrea
, et al.
소스
Clinical Genetics
. Nov2021, Vol. 100 Issue 5, p607-614. 8p.
Web of Science
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17 . Academic Journal
Report on 3 patients with 12p duplication including GRIN2B
저자
by
Poirsier, Celine
;
Landais, Emilie
;
Bednarek, Nathalie
;
Nobecourt, Jean-Marie
;
Khoury, Maroun
, et al.
소스
In
European Journal of Medical Genetics
April 2014 57(5):185-194
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17 . Periodical
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
저자
by
Tebani, Abdellah
;
Sudrié-Arnaud, Bénédicte
;
Dabaj, Ivana
;
Torre, Stéphanie
;
Domitille, Laur
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 4 p377-384, 8p
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