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1 . Academic Journal
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
저자
by
Naesens, Leslie
;
Nemegeer, Josephine
;
Roelens, Filip
;
Vallaeys, Lore
;
Meuwissen, Marije
, et al.
소스
Journal of Clinical Immunology
. Jul2022, Vol. 42 Issue 5, p962-974. 13p.
Web of Science
Scopus
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7 . Academic Journal
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
저자
by
Manivannan, Sathiya N
;
Roovers, Jolien
;
Smal, Noor
;
Myers, Candace T
;
Turkdogan, Dilsad
, et al.
소스
Brain: A Journal of Neurology
. May2022, Vol. 145 Issue 5, p1684-1697. 14p.
Full Text (OUP)
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7 . Academic Journal
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
저자
by
Cristofoli, Francesca
;
Moss, Tonya
;
Moore, Hannah W.
;
Devriendt, Koen
;
Flanagan-Steet, Heather
, et al.
소스
American Journal of Human Genetics
. Oct2020, Vol. 107 Issue 4, p753-762. 10p.
Full Text (ScienceDirect)
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7 . Academic Journal
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
저자
by
Vandervore, Laura
;
Stouffs, Katrien
;
Tanyalçin, Ibrahim
;
Vanderhasselt, Tim
;
Roelens, Filip
, et al.
소스
Journal of Medical Genetics; Jun2017, Vol. 54 Issue 6, p432-440, 9p
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7 . Periodical
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1
저자
by
Renaud, Mathilde
;
Moreira, Maria-Céu
;
Ben Monga, Bondo
;
Rodriguez, Diana
;
Debs, Rabab
, et al.
소스
JAMA Neurology; April 2018, Vol. 75 Issue: 4 p495-502, 8p
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7 . Academic Journal
Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene
저자
by
Marti-Sanchez, Laura
;
Baide-Mairena, Heidy
;
Marce-Grau, Anna
;
Pons, Roser
;
Skouma, Anastasia
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
; AUG 16 2020, 14p.
Scopus
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7 .
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
저자
by
Manivannan, Sathiya N.
;
Roovers, Jolien
;
Smal, Noor
;
Myers, Candace T.
;
Turkdogan, Dilsad
, et al.
소스
Brain
Full Text (OUP)
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
Redefining the MED13L syndrome.
저자
by
Adegbola, Abidemi
;
Musante, Luciana
;
Callewaert, Bert
;
Maciel, Patricia
;
Hu, Hao
, et al.
소스
European Journal of Human Genetics
. Oct2015, Vol. 23 Issue 10, p1308-1317. 10p.
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7 . Periodical
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
저자
by
Redin, Claire
;
Brand, Harrison
;
Collins, Ryan L
;
Kammin, Tammy
;
Mitchell, Elyse
, et al.
소스
Nature Genetics; January 2017, Vol. 49 Issue: 1 p36-45, 10p
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Scopus
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7 . Periodical
Bi-allelic variants in COL3A1encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
저자
by
Vandervore, Laura
;
Stouffs, Katrien
;
Tanyalcin, Ibrahim
;
Vanderhasselt, Tim
;
Roelens, Filip
, et al.
소스
Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 6 p432-440, 9p
Full Text (BMJ Journals)
Web of Science
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