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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

American journal of human genetics, 2016-03, Vol.98 (3), p.562-570

2016

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

American journal of human genetics, 2013-09, Vol.93 (3), p.471-481

2013

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ADAT3-related intellectual disability: Further delineation of the phenotype

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1142-1147

2016

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Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria

Clinical case reports, 2017-08, Vol.5 (8), p.1303-1308

2017

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Antimicrobial and antioxidant potential of the silver nanoparticles synthesized using aqueous extracts of coconut meat (Cocos nucifera L)

Scientific reports, 2023-09, Vol.13 (1), p.16270-16270, Article 16270

2023

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Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations

Saudi journal of biological sciences, 2022-12, Vol.29 (12), p.103461-103461, Article 103461

2022

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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy

Circulation. Genomic and precision medicine, 2020-10, Vol.13 (5), p.504-514

2020

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Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Molecular genetics and metabolism reports, 2019-03, Vol.18, p.22-29

2019

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

American journal of human genetics, 2013-10, Vol.93 (4), p.773-773

2013

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Prescribing patterns for acute respiratory infections in primary health care, aseer region, saudi arabia

Journal of Family & Community Medicine, 2005-09, Vol.12 (3), p.121-126

2005

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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

American journal of human genetics, 2019-11, Vol.105 (5), p.907-920

2019

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Nature communications, 2020-01, Vol.11 (1), p.595-595, Article 595

2020

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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Molecular genetics and metabolism, 2018-11, Vol.125 (3), p.281-291

2018

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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

BMC medical genomics, 2016-07, Vol.9 (1), p.42-42, Article 42

2016

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PREVALENCE OF HEMORRHOIDS AND ASSOCIATED COMPLICATIONS IN KINGDOM OF SAUDI ARABIA

International journal of advanced research (Indore), 2020-01, Vol.8 (1), p.55-67

2020

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Goldenhar syndrome and hereditary tyrosinemia type 1

Neurosciences (Riyadh, Saudi Arabia), 2003-01, Vol.8 (1), p.55-59

2003

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Atypical presentations of propionic acidemia

Health (Irvine, Calif.), 2012, Vol.4 (9), p.629-633

2012

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Goldenhar syndrome and hereditary tyrosinemia type 1

Saudi medical journal, 2002-12, Vol.23 (12), p.1527

2002

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Nonketotic hyperglycinemia in Suleimaniah Children's Hospital, Riyadh, Saudi Arabia

Annals of Saudi medicine, 2004-09, Vol.24 (5), p.378-381

2004

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The use of the Internet among EFL teachers at the colleges of technology in Saudi Arabia

Al-Asmari, Ali M

2005

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Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria

Clinical case reports, 2017, Vol.5 (8), p.1303-1308

2017

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In vitro determination of the efficacy of scorpion venoms as anti-cancer agents against colorectal cancer cells: a nano-liposomal delivery approach

International journal of nanomedicine, 2017-01, Vol.12, p.559-574

2017

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Oral health status of Down's syndrome patients in Aseer, Saudi Arabia

Journal of pharmacy & bioallied science, 2021-06, Vol.13 (5), p.656-659

2021

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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

ADAT3-related intellectual disability: Further delineation of the phenotype

Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria

Antimicrobial and antioxidant potential of the silver nanoparticles synthesized using aqueous extracts of coconut meat (Cocos nucifera L)

Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Prescribing patterns for acute respiratory infections in primary health care, aseer region, saudi arabia

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Molecular and clinical spectra of FBXL4 deficiency

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

PREVALENCE OF HEMORRHOIDS AND ASSOCIATED COMPLICATIONS IN KINGDOM OF SAUDI ARABIA

Goldenhar syndrome and hereditary tyrosinemia type 1

Atypical presentations of propionic acidemia

Goldenhar syndrome and hereditary tyrosinemia type 1

Nonketotic hyperglycinemia in Suleimaniah Children's Hospital, Riyadh, Saudi Arabia

The use of the Internet among EFL teachers at the colleges of technology in Saudi Arabia

Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria

In vitro determination of the efficacy of scorpion venoms as anti-cancer agents against colorectal cancer cells: a nano-liposomal delivery approach

Oral health status of Down's syndrome patients in Aseer, Saudi Arabia

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