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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
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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7 . Academic Journal
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
저자
by
AlAbdi, Lama
;
Maddirevula, Sateesh
;
Shamseldin, Hanan E.
;
Khouj, Ebtissal
;
Helaby, Rana
, et al.
소스
Nature Communications; 8/29/2023, Vol. 14 Issue 1, p1-19, 19p
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7 . Academic Journal
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.
저자
by
Al‐Hamed, Mohamed H.
;
Altuwaijri, Norah
;
Alsahan, Nada
;
Ali, Wafaa
;
Abdulwahab, Firdous
, et al.
소스
Clinical Genetics
. Jul2022, Vol. 102 Issue 1, p61-65. 5p.
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7 .
Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene
저자
by
Alowaysi, Maryam
;
Astro, Veronica
;
Fiacco, Elisabetta
;
Alzahrani, Fatema
;
Alkuraya, Fowzan S.
, et al.
소스
In
Stem Cell Research
January 2021 50
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7 . Academic Journal
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
저자
by
Shamseldin, Hanan E.
;
AlAbdi, Lama
;
Maddirevula, Sateesh
;
Alsaif, Hessa S.
;
Alzahrani, Fatema
, et al.
소스
Genome Medicine
. 10/13/2021, Vol. 13 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Academic Journal
Further delineation of SMG9‐related heart and brain malformation syndrome.
저자
by
Altuwaijri, Norah
;
Abdelbaky, Mona
;
Alhashem, Amal
;
Alrakaf, Maha
;
Hashem, Mais
, et al.
소스
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1624-1630, 7p
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7 . Periodical
Biallelic variants in KARS1are 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
Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1933-1943, 11p
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7 . Academic Journal
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
저자
by
Alzahrani, Fatema
;
Kuwahara, Hiroyuki
;
Long, Yongkang
;
Al-Owain, Mohammed
;
Tohary, Mohamed
, et al.
소스
American Journal of Human Genetics
. Dec2020, Vol. 107 Issue 6, p1178-1185. 8p.
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7 . Academic Journal
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
저자
by
Maddirevula, Sateesh
;
Kuwahara, Hiroyuki
;
Ewida, Nour
;
Shamseldin, Hanan E.
;
Patel, Nisha
, et al.
소스
Genome Biology; 6/17/2020, Vol. 21 Issue 1, p1-21, 21p
Open Access (BioMed Central)
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