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Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

American journal of human genetics, 2005-07, Vol.77 (1), p.16-26

2005

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Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old

Molecular cancer, 2010-06, Vol.9 (1), p.146-146

2010

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Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

Pediatric research, 1995-09, Vol.38 (3), p.324-331

1995

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Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Molecular cytogenetics, 2011-04, Vol.4 (1), p.9-9, Article 9

2011

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Clinical and biochemical features associated with BCS1L mutation

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.813-820

2013

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A novel X-linked disorder with developmental delay and autistic features

Annals of neurology, 2012-04, Vol.71 (4), p.498-508

2012

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Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

Clinical chemistry (Baltimore, Md.), 1997-07, Vol.43 (7), p.1129-1141

1997

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GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1281-1284

2011

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Biotin-responsive basal ganglia disease : a novel entity

Brain (London, England : 1878), 1998-07, Vol.121 (7), p.1267-1279

1998

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Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy

Neurology, 2004-10, Vol.63 (7), p.1305-1308

2004

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Novel Mitochondrial DNA Transversion Mutation in Transfer Ribonucleic Acid for Leucine 2 (CUN) in a Patient With the Clinical Features of MELAS

Journal of child neurology, 2006-11, Vol.21 (11), p.971-972

2006

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Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease

Brain & development (Tokyo. 1979), 2000-03, Vol.22 (2), p.127-131

2000

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Hormonal levels of leptin, insulin, ghrelin, and neuropeptide Y in lean, overweight, and obese Saudi females

Saudi medical journal, 2007-08, Vol.28 (8), p.1191

2007

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Nitric oxide promotes mitogen-induced dna synthesis in human dermal fibroblasts through cGMP

Clinical and experimental pharmacology & physiology, 2004-01, Vol.31 (1-2), p.46-49

2004

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A simple, rapid test for the differential diagnosis of glycogen storage disease type 3

Clinica chimica acta, 2003-09, Vol.335 (1), p.21-26

2003

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Ophthalmic Manifestations of Sanjad-Sakati Syndrome

Ophthalmic genetics, 2006-09, Vol.27 (3), p.83-87

2006

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A new era for preventive genetic programs in the Arabian Peninsula

Saudi medical journal, 2003-11, Vol.24 (11), p.1168

2003

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3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome

Saudi medical journal, 2006-05, Vol.27 (5), p.732

2006

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Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease

Journal of perinatology, 2000-03, Vol.20 (2), p.120-128

2000

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Annals of neurology, 2012-11, Vol.72 (5), p.822-823

2012

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Annals of neurology, 2012-11, Vol.72 (5), p.822

2012

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Annals of neurology, 2012-11, Vol.72 (5), p.822-823

2012

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Annals of neurology, 2012-11, Vol.72 (5), p.822-823

2012

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Carnitine prevents cyclic GMP-induced inhibition of peroxisomal enzyme activities

Cell biochemistry and function, 2004-11, Vol.22 (6), p.365-371

2004

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Recently Available Techniques Applicable to Genetic Problems in the Middle East

Community genetics, 2005-01, Vol.8 (1), p.44-47

2005

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Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Clinical and biochemical features associated with BCS1L mutation

A novel X-linked disorder with developmental delay and autistic features

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

Biotin-responsive basal ganglia disease : a novel entity

Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy

Novel Mitochondrial DNA Transversion Mutation in Transfer Ribonucleic Acid for Leucine 2 (CUN) in a Patient With the Clinical Features of MELAS

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI of the brain and biochemical observations in a patient with 4-hydroxybutyric aciduria; a progressive neurometabolic disease

Hormonal levels of leptin, insulin, ghrelin, and neuropeptide Y in lean, overweight, and obese Saudi females

Nitric oxide promotes mitogen-induced dna synthesis in human dermal fibroblasts through cGMP

A simple, rapid test for the differential diagnosis of glycogen storage disease type 3

Ophthalmic Manifestations of Sanjad-Sakati Syndrome

A new era for preventive genetic programs in the Arabian Peninsula

3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome

Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease

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Carnitine prevents cyclic GMP-induced inhibition of peroxisomal enzyme activities

Recently Available Techniques Applicable to Genetic Problems in the Middle East

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