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A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia

Heliyon, 2024-08, Vol.10 (15), p.e35058, Article e35058

2024

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25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

Endocrine Connections, 2021-07, Vol.10 (7), p.767-775

2021

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1. Founder mutation identified in the LDLR gene causing familial hypercholesterolemia associated with increased risk of coronary heart disease

Journal Of The Saudi Heart Association, 2017-10, Vol.29 (4), p.318-318

2017

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4. Identification of a novel nonsense variant C.1332DUP, P. (D445) in the LDLR gene that causes familial hypercholesterolemia

Journal Of The Saudi Heart Association, 2017-10, Vol.29 (4), p.325-325

2017

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Lomitapide in Pediatric Patients with Homozygous Familial Hypercholesterolemia – Analysis of Secondary and Safety Endpoints from the APH-19 Study

Journal of clinical lipidology, 2024-07, Vol.18 (4), p.e545-e546

2024

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Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease

Gene, 2015-07, Vol.565 (1), p.76-84

2015

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The clinical utility of rapid exome sequencing in a consanguineous population

Genome medicine, 2023-06, Vol.15 (1), p.44-44, Article 44

2023

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Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient

Acta biochimica Polonica, 2017-01, Vol.64 (1), p.75

2017

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Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs33)) causing familial hypercholesterolemia in Saudi Arab homozygous children

Genomics (San Diego, Calif.), 2016-01, Vol.107 (1), p.24-32

2016

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Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

Journal of Pediatric Endocrinology and Metabolism, 2018-08, Vol.31 (8), p.861-868

2018

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Identification of a novel nonsense variant c.1332dup, p.(D445) in the LDLR gene that causes familial hypercholesterolemia

Human genome variation, 2014, Vol.1 (1), p.14021-14021, Article 14021

2014

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ABANDONED HOUSING PROJECTS IN MALAYSIA: RISK MANAGEMENT CAPABILITIES DURING REHABILITATION

ArchNet-IJAR, 2016-07, Vol.10 (2), p.153

2016

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Infrastructure Sharing and Quality of Service for Telecommunication Companies in Yemen

2021 International Congress of Advanced Technology and Engineering (ICOTEN), 2021, p.1-6

2021

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Keratin-based Bioplastic from Chicken Feathers: Synthesis, Properties, and Applications

Industrial Applications of Biopolymers and their Environmental Impact, 2021, p.292-304

1, 2021

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A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

The journal of clinical endocrinology and metabolism, 1996-07, Vol.81 (7), p.2564-2569

1996

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The Genetics of the Human Growth Hormone Axis and Associated Dwarfing Disorders

Annals of Saudi medicine, 1996-07, Vol.16 (4), p.430-437

1996

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A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

1. Founder mutation identified in the LDLR gene causing familial hypercholesterolemia associated with increased risk of coronary heart disease

4. Identification of a novel nonsense variant C.1332DUP, P. (D445) in the LDLR gene that causes familial hypercholesterolemia

Lomitapide in paediatric patients with homozygous familial hypercholesterolaemia (HoFH) – analysis of patient-level LDL-C reduction, fat soluble vitamins, lipoproteins and patient maturation from APH-19 study

Lomitapide in Pediatric Patients with Homozygous Familial Hypercholesterolemia – Analysis of Secondary and Safety Endpoints from the APH-19 Study

Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease

Lomitapide in paediatric patients with homozygous familial hypercholesterolaemia (HoFH) – Analysis of patient-level LDL-C reduction, fat-soluble vitamins, lipoproteins and patient maturation from the APH-19 study

The clinical utility of rapid exome sequencing in a consanguineous population

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient

Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs33)) causing familial hypercholesterolemia in Saudi Arab homozygous children

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

Identification of a novel nonsense variant c.1332dup, p.(D445) in the LDLR gene that causes familial hypercholesterolemia

ABANDONED HOUSING PROJECTS IN MALAYSIA: RISK MANAGEMENT CAPABILITIES DURING REHABILITATION

Infrastructure Sharing and Quality of Service for Telecommunication Companies in Yemen

Keratin-based Bioplastic from Chicken Feathers: Synthesis, Properties, and Applications

A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

The Genetics of the Human Growth Hormone Axis and Associated Dwarfing Disorders

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