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1 . Academic Journal
De novo variants in DENND5B cause a neurodevelopmental disorder
저자
by
Acosta, Maria T.
;
Adams, David R.
;
Alvarez, Raquel L.
;
Alvey, Justin
;
Allworth, Aimee
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):529-543
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7 . Academic Journal
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
저자
by
Maroofian, Reza
;
Zamani, Mina
;
Kaiyrzhanov, Rauan
;
Liebmann, Lutz
;
Karimiani, Ehsan Ghayoor
, et al.
소스
In
Genetics in Medicine
March 2024 26(3)
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7 . Academic Journal
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
저자
by
Scorrano, Giovanna
;
D'Onofrio, Gianluca
;
Accogli, Andrea
;
Severino, Mariasavina
;
Buchert, Rebecca
, et al.
소스
In
Pediatric Neurology
December 2023 149:84-92
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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
Influence of adaptive denoising on Diffusion Kurtosis Imaging at 3T and 7T
저자
by
Tro', Rosella
;
Roascio, Monica
;
Arnulfo, Gabriele
;
Tortora, Domenico
;
Severino, Mariasavina
, et al.
소스
In
Computer Methods and Programs in Biomedicine
June 2023 234
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7 . Academic Journal
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
저자
by
Naim, Alessandro
;
Accogli, Andrea
;
Amadori, Elisabetta
;
D'Onofrio, Gianluca
;
Madia, Francesca
, et al.
소스
In
European Journal of Medical Genetics
November 2022 65(11)
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7 . Academic Journal
Peculiar bony involvement of sinus pericranii in children: Extensive diploic erosion in three “karstic” variants
저자
by
Fiaschi, Pietro
;
Bue, Enrico Lo
;
Ceraudo, Marco
;
Secci, Francesca
;
Tortora, Domenico
, et al.
소스
In
Clinical Neurology and Neurosurgery
August 2022 219
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7 . Academic Journal
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature
저자
by
Troisi, Serena
;
Maitz, Silvia
;
Severino, Mariasavina
;
Spano, Alice
;
Cappuccio, Gerarda
, et al.
소스
In
European Journal of Medical Genetics
January 2022 65(1)
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7 . Academic Journal
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
저자
by
Lin, Sheng-Jia
;
Vona, Barbara
;
Barbalho, Patricia G.
;
Kaiyrzhanov, Rauan
;
Maroofian, Reza
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1933-1943
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