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41 . Academic Journal
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.
저자
by
Cospain, Auriane
;
Schaefer, Elise
;
Faoucher, Marie
;
Dubourg, Christèle
;
Carré, Wilfrid
, et al.
소스
Clinical Genetics
. May2021, Vol. 99 Issue 5, p732-739. 8p.
Web of Science
Scopus
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47 . Academic Journal
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
저자
by
Ghesh, Leïla
;
Besnard, Thomas
;
Nizon, Mathilde
;
Trochu, Eva
;
Landeau‐Trottier, Gaëlle
, et al.
소스
Human Mutation; May2021, Vol. 42 Issue 5, p498-505, 8p
Web of Science
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47 . Academic Journal
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
저자
by
Woerden, Geeske M.
;
Bos, Melanie
;
Konink, Charlotte
;
Distel, Ben
;
Avagliano Trezza, Rossella
, et al.
소스
Human Mutation; Apr2021, Vol. 42 Issue 4, p445-459, 15p
Web of Science
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47 . Periodical
Haploinsufficiency of ARFGEF1is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
저자
by
Thomas, Quentin
;
Gautier, Thierry
;
Marafi, Dana
;
Besnard, Thomas
;
Willems, Marjolaine
, et al.
소스
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1901-1911, 11p
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47 . Academic Journal
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
저자
by
Hüffmeier, Ulrike
;
Kraus, Cornelia
;
Reuter, Miriam S.
;
Uebe, Steffen
;
Abbott, Mary-Alice
, et al.
소스
Orphanet Journal of Rare Diseases
. 3/18/2021, Vol. 16 Issue 1, p1-9. 9p.
Open Access (BioMed Central)
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47 . Academic Journal
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
저자
by
den Hoed, Joery
;
de Boer, Elke
;
Voisin, Norine
;
Dingemans, Alexander J.M.
;
Guex, Nicolas
, et al.
소스
American Journal of Human Genetics
. Feb2021, Vol. 108 Issue 2, p346-356. 11p.
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47 . Academic Journal
Exome sequencing in the etiologic assessment of the stroke of the young.
저자
by
Mania-Pâris, Loraine
;
Thomas, Quentin
;
Vitobello, Antonio
;
Mau-Them, Frédéric Tran
;
Duffourd, Yannis
, et al.
소스
Journal of the Neurological Sciences
. 2023 Supplement, Vol. 455, pN.PAG-N.PAG. 1p.
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47 . Academic Journal
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
저자
by
Duncan, Anna R.
;
Vitobello, Antonio
;
Collins, Stephan C.
;
Vancollie, Valerie E.
;
Lelliott, Christopher J.
, et al.
소스
American Journal of Human Genetics
. Dec2020, Vol. 107 Issue 6, p1170-1177. 8p.
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47 . Academic Journal
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
저자
by
Tran Mau-Them, Frederic
;
Moutton, Sebastien
;
Racine, Caroline
;
Vitobello, Antonio
;
Bruel, Ange-Line
, et al.
소스
Human Genetics
. Nov2020, Vol. 139 Issue 11, p1381-1390. 10p.
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47 . Academic Journal
Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
저자
by
Bruel, Ange‐Line
;
Vitobello, Antonio
;
Tran Mau‐Them, Frédéric
;
Nambot, Sophie
;
Sorlin, Arthur
, et al.
소스
Clinical Genetics
. Nov2020, Vol. 98 Issue 5, p433-444. 12p.
Web of Science
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