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1 . Academic Journal
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
저자
by
Shafique, Anum
;
Sultan, Tipu
;
Alzahrani, Fatema
;
Hun Seo, Go
;
Alkuraya, Fowzan S
, et al.
소스
In
Gene
30 August 2023 879
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7 . Academic Journal
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
저자
by
Efthymiou, Stephanie
;
Scala, Marcello
;
Nagaraj, Vini
;
Ochenkowska, Katarzyna
;
Komdeur, Fenne L
, et al.
소스
Brain: A Journal of Neurology
. May2024, Vol. 147 Issue 5, p1822-1836. 15p.
Full Text (OUP)
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7 . Academic Journal
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
저자
by
Awamleh, Zain
;
Choufani, Sanaa
;
Cytrynbaum, Cheryl
;
Alkuraya, Fowzan S
;
Scherer, Stephen
, et al.
소스
Human Molecular Genetics; May2023, Vol. 32 Issue 9, p1429-1438, 10p
Full Text (OUP)
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7 . Academic Journal
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
저자
by
Almannai, Mohammed
;
AlAbdi, Lama
;
Maddirevula, Sateesh
;
Alotaibi, Maha
;
Alsaleem, Badr M.
, et al.
소스
Human Genetics
. Mar2023, Vol. 142 Issue 3, p399-405. 7p.
Web of Science
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7 . Academic Journal
LEPREL1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome
저자
by
Magliyah, Moustafa S.
;
AlMarek, Faisal
;
Nowilaty, Sawsan R.
;
Al-Abdi, Lama
;
Alkuraya, Fowzan S
, et al.
소스
Retina
. Dec 07, 2022
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7 . Periodical
ARF1-related disorder: phenotypic and molecular spectrum
저자
by
de Sainte Agathe, Jean-Madeleine
;
Pode-Shakked, Ben
;
Naudion, Sophie
;
Michaud, Vincent
;
Arveiler, Benoit
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 10 p999-1005, 7p
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7 . Periodical
Bi-allelic variants in WNT7Bdisrupt the development of multiple organs in humans
저자
by
Bouasker, Samir
;
Patel, Nisha
;
Greenlees, Rebecca
;
Wellesley, Diana
;
Fares Taie, Lucas
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 3 p294-300, 7p
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7 . Periodical
Homozygous truncating variant in MAN2A2causes a novel congenital disorder of glycosylation with neurological involvement
저자
by
Mahajan, Sonal
;
Ng, Bobby George
;
AlAbdi, Lama
;
Earnest, Paul Daniel James
;
Sosicka, Paulina
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p627-635, 9p
Full Text (BMJ Journals)
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7 . Academic Journal
Abstract 15842: Interplay of Genomic and Conventional Risk for Cardiometabolic Disease in Saudi Arabia
저자
by
Shim, Injeong
;
Kuwahara, Hiroyuki
;
Chen, NingNing
;
Hashem, Mais
;
AlAbdi, Lama
, et al.
소스
Circulation
. Nov 08, 2022 146(Suppl_1 Suppl 1):A15842-A15842
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7 . Academic Journal
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.
저자
by
Maddirevula, Sateesh
;
Alameer, Seham
;
Ewida, Nour
;
de Sousa, Mirta Mittelstedt Leal
;
Bjørås, Magnar
, et al.
소스
Human Genetics
. Feb2022, Vol. 141 Issue 2, p209-215. 7p.
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