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1 . Academic Journal
Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
저자
by
Ewa Goljan
;
Mohammed Abouelhoda
;
Asma Tahir
;
Mohamed ElKalioby
;
Brian Meyer
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)
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7 . Academic Journal
The clinical utility of rapid exome sequencing in a consanguineous population
저자
by
Dorota Monies
;
Ewa Goljan
;
Rapid Exome Consortium
;
Mirna Assoum
;
Muna Albreacan
, et al.
소스
Genome Medicine, Vol 15, Iss 1, Pp 1-14 (2023)
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7 . Academic Journal
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
저자
by
Mohamed Abouelhoda
;
Dania Mohty
;
Islam Alayary
;
Brian F. Meyer
;
Stefan T. Arold
, et al.
소스
Human Genomics, Vol 15, Iss 1, Pp 1-8 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Molecular classification of blood and bleeding disorder genes
저자
by
Batoul Baz
;
Mohamed Abouelhoda
;
Tarek Owaidah
;
Majed Dasouki
;
Dorota Monies
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
저자
by
Norah Alharbi
;
Rawan Matar
;
Edward Cupler
;
Hindi Al-Hindi
;
Hatem Murad
, et al.
소스
Frontiers in Neuroscience, Vol 16 (2022)
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7 . Academic Journal
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
저자
by
Ewa Goljan
;
Mohammed Abouelhoda
;
Mohamed M ElKalioby
;
Amjad Jabaan
;
Nada Alghithi
, et al.
소스
PLoS ONE, Vol 17, Iss 1, p e0263137 (2022)
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7 . Academic Journal
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
저자
by
Sateesh Maddirevula
;
Hiroyuki Kuwahara
;
Nour Ewida
;
Hanan E. Shamseldin
;
Nisha Patel
, et al.
소스
Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
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7 . Academic Journal
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
저자
by
Majed Dasouki
;
Ayodeele Alaiya
;
Tanziel ElAmin
;
Zakia Shinwari
;
Dorota Monies
, et al.
소스
iScience, Vol 24, Iss 3, Pp 102214- (2021)
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7 . Academic Journal
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update
저자
by
Sateesh Maddirevula
;
Hanan E. Shamseldin
;
Amy Sirr
;
Lama AlAbdi
;
Russell S. Lo
, et al.
소스
Frontiers in Genetics, Vol 11 (2020)
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7 . Academic Journal
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling
저자
by
Yılmaz Kor
;
Minjing Zou
;
Roua A. Al-Rijjal
;
Dorota Monies
;
Brian F. Meyer
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
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