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1 . Academic Journal
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
저자
by
Banks, Emily
;
Francis, Vincent
;
Lin, Sheng-Jia
;
Kharfallah, Fares
;
Fonov, Vladimir
, et al.
소스
Nature Communications
. 15(1)
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7 . Academic Journal
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
저자
by
Giovenino, Chiara
;
Trajkova, Slavica
;
Pavinato, Lisa
;
Cardaropoli, Simona
;
Pullano, Verdiana
, et al.
소스
European Journal of Human Genetics
. 31(11):1228-1236
Web of Science
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7 . Academic Journal
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
저자
by
Marafi, Dana
;
Kozar, Nina
;
Duan, Ruizhi
;
Bradley, Stephen
;
Yokochi, Kenji
, et al.
소스
American Journal of Human Genetics
. Sep2022, Vol. 109 Issue 9, p1713-1723. 11p.
Full Text (ScienceDirect)
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7 . Academic Journal
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
저자
by
Rapp, Christina K.
;
Van Dijck, Ine
;
Laugwitz, Lucia
;
Boon, Mieke
;
Briassoulis, George
, et al.
소스
Clinical Genetics
. Oct2021, Vol. 100 Issue 4, p453-461. 9p.
Web of Science
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7 . Periodical
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
저자
by
Laugwitz, Lucia
;
Seibt, Annette
;
Herebian, Diran
;
Peralta, Susana
;
Kienzle, Imke
, et al.
소스
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p878-887, 10p
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7 . Periodical
Haploinsufficiency of PRR12causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
저자
by
Chowdhury, Fuad
;
Wang, Lei
;
Al-Raqad, Mohammed
;
Amor, David J.
;
Baxová, Alice
, et al.
소스
Genetics in Medicine; July 2021, Vol. 23 Issue: 7 p1234-1245, 12p
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7 . Academic Journal
Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.
저자
by
Knuutinen, Oula
;
Pyle, Angela
;
Suo‐Palosaari, Maria
;
Duff, Jennifer
;
Froukh, Tawfiq
, et al.
소스
Clinical Genetics
. Nov2020, Vol. 98 Issue 5, p493-498. 6p.
Web of Science
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7 . Academic Journal
First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.
저자
by
Froukh, Tawfiq
.
소스
BioMed Research International
(BIOMED RES INT), 1/30/2019; 1-7. (7p)
EBSCOHost PDF
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3 . Academic Journal
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
저자
by
Froukh, Tawfiq
;
Nafie, Omar
;
Al Hait, Sana' A. S.
;
Laugwitz, Lucia
;
Sommerfeld, Julia
, et al.
소스
Clinical Genetics
. Apr2020, Vol. 97 Issue 4, p621-627. 7p. 2 Charts, 1 Graph.
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7 . Academic Journal
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene.
저자
by
Froukh, Tawfiq
.
소스
Pakistan Journal of Medical Sciences
. Nov/Dec2019, Vol. 35 Issue 6, p1736-1739. 4p.
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