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1 . Academic Journal
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
저자
by
Scala, Marcello
;
Khan, Kamal
;
Beneteau, Claire
;
Fox, Rachel G.
;
von Hardenberg, Sandra
, et al.
소스
In
Genetics in Medicine
April 2024 26(4)
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7 . Academic Journal
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
저자
by
de Masfrand, Servane
;
Cogné, Benjamin
;
Nizon, Mathilde
;
Deb, Wallid
;
Goldenberg, Alice
, et al.
소스
In
European Journal of Medical Genetics
June 2024 69
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7 . Academic Journal
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
저자
by
Bosch, Elisabeth
;
Popp, Bernt
;
Güse, Esther
;
Skinner, Cindy
;
van der Sluijs, Pleuntje J.
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
저자
by
Accogli, Andrea
;
Lin, Sheng-Jia
;
Severino, Mariasavina
;
Kim, Sung-Hoon
;
Huang, Kevin
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
A new neurodevelopmental disorder linked to heterozygous variants in UNC79
저자
by
Bayat, Allan
;
Liu, Zhenjiang
;
Luo, Sheng
;
Fenger, Christina D.
;
Højte, Anne F.
, et al.
소스
In
Genetics in Medicine
September 2023 25(9)
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7 . Academic Journal
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
저자
by
Acosta, Maria T.
;
Adam, Margaret
;
Adams, David R.
;
Alvey, Justin
;
Amendola, Laura
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):774-789
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7 . Academic Journal
Haploinsufficiency of ARFGEF1 is 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
In
Genetics in Medicine
October 2021 23(10):1901-1911
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7 . Academic Journal
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
저자
by
Vera, Gabriella
;
Sorlin, Arthur
;
Delplancq, Geoffroy
;
Lecoquierre, François
;
Brasseur-Daudruy, Marie
, et al.
소스
In
European Journal of Medical Genetics
October 2020 63(10)
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7 . Academic Journal
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
저자
by
Herbst, Charlotte
;
Bothe, Viktoria
;
Wegler, Meret
;
Axer-Schaefer, Susanne
;
Audebert-Bellanger, Séverine
, et al.
소스
Human Genetics
. Mar2024, Vol. 143 Issue 3, p455-469. 15p.
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7 . Academic Journal
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
저자
by
Al‐Kateb, Hussam
;
Au, P. Y. Billie
;
Berland, Siren
;
Cogne, Benjamin
;
Demurger, Florence
, et al.
소스
Clinical Genetics
. Mar2024, Vol. 105 Issue 3, p294-301. 8p.
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