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1 . Academic Journal
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
저자
by
Denommé-Pichon, Anne-Sophie
;
Collins, Stephan C.
;
Bruel, Ange-Line
;
Mikhaleva, Anna
;
Wagner, Christel
, et al.
소스
In
Genetics in Medicine
July 2023 25(7)
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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
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
저자
by
Masson, Julie
;
Pons, Linda
;
Busa, Tiffany
;
Missirian, Chantal
;
Lines, Matthew
, et al.
소스
In
European Journal of Medical Genetics
April 2022 65(4)
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7 . Academic Journal
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
저자
by
Freud, Lindsay R.
;
Galloway, Stephanie
;
Crowley, T. Blaine
;
Moldenhauer, Julie
;
Swillen, Ann
, et al.
소스
In
American Journal of Obstetrics and Gynecology
March 2024 230(3):368-368
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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
Growth charts in Cockayne syndrome type 1 and type 2
저자
by
Baer, Sarah
;
Tuzin, Nicolas
;
Kang, Peter B.
;
Mohammed, Shehla
;
Kubota, Masaya
, et al.
소스
In
European Journal of Medical Genetics
January 2021 64(1)
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7 . Academic Journal
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
저자
by
Addor, Marie-Claude
;
Andrieux, Joris
;
Arveiler, Benoît
;
Baujatm, Geneviève
;
Sloan-Bénan, Frédérique
, et al.
소스
In
NeuroImage
December 2019 203
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7 . Academic Journal
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
저자
by
Addor, Marie-Claude
;
Andrieux, Joris
;
Arveiler, Benoît
;
Baujat, Geneviève
;
Sloan-Béna, Frédérique
, et al.
소스
In
Biological Psychiatry
15 August 2018 84(4):253-264
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7 . Academic Journal
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35–36.3 deletion including SHH gene
저자
by
Busa, Tiffany
;
Panait, Nicoleta
;
Chaumoitre, Kathia
;
Philip, Nicole
;
Missirian, Chantal
.
소스
In
European Journal of Medical Genetics
October 2016 59(10):546-548
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7 . Academic Journal
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
저자
by
van der Sluijs, Pleuntje J.
;
Joosten, Marieke
;
Alby, Caroline
;
Attié-Bitach, Tania
;
Gilmore, Kelly
, et al.
소스
In
Genetics in Medicine
February 2023 25(2)
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