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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Scientific reports, 2021-06, Vol.11 (1), p.12861-12861, Article 12861

2021

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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Human genetics, 2021-04, Vol.140 (4), p.579-592

2021

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Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

Frontiers in neurology, 2021-03, Vol.12, p.633119-633119

2021

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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-422, Article 422

2021

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Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

Pediatric neurology, 2018-01, Vol.78, p.35-40

2018

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A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised controlled trial

Trials, 2020-10, Vol.21 (1), p.904-3, Article 904

2020

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Human genetics, 2016-11, Vol.135 (11), p.1263-1268

2016

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Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

Frontiers in genetics, 2019-06, Vol.10, p.534-534

2019

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Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial

BMC pediatrics, 2019-06, Vol.19 (1), p.195-195, Article 195

2019

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Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.2097-2103

2019

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A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Frontiers in pediatrics, 2020-02, Vol.8, p.71

2020

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A new case of BainbridgeRopers syndrome (BRPS): delineating the phenotype and review of literature

Journal of Biochemical and Clinical Genetics, 2019-06, Vol.2 (1), p.65-69

2019

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The association between IVF and chromosomal abnormalities compared to spontaneous conception

Journal of Biochemical and Clinical Genetics, 2021-06, Vol.4 (1), p.42-47

2021

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Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100644, Article 100644

2020

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Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Annals of clinical and translational neurology, 2020-06, Vol.7 (6), p.956-964

2020

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Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Frontiers in cell and developmental biology, 2021-10, Vol.9, p.736960-736960

2021

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Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report

Journal of Biochemical and Clinical Genetics, 2018-06, Vol.1 (1), p.47-50

2018

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Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

Frontiers in pediatrics, 2020-11, Vol.8, p.569389-569389

2020

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PRUNE Syndrome Is a New Neurodevelopmental Disorder

Child neurology open, 2018-01, Vol.5

2018

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Report of a Case that Expands the Phenotype of Infantile Krabbe Disease

The American journal of case reports, 2019-05, Vol.20, p.643-646

2019

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Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations

Journal of pediatric hematology/oncology, 2017-11, Vol.39 (8), p.e430-e436

2017

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The landscape of early infantile epileptic encephalopathy in a consanguineous population

Seizure (London, England), 2019-07, Vol.69, p.154-172

2019

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature communications, 2024-02, Vol.15 (1), p.1758-1758, Article 1758

2024

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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Brain (London, England : 1878), 2024-04, Vol.147 (4), p.1197-1205

2024

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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised controlled trial

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

A new case of BainbridgeRopers syndrome (BRPS): delineating the phenotype and review of literature

The association between IVF and chromosomal abnormalities compared to spontaneous conception

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

PRUNE Syndrome Is a New Neurodevelopmental Disorder

Report of a Case that Expands the Phenotype of Infantile Krabbe Disease

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations

The landscape of early infantile epileptic encephalopathy in a consanguineous population

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

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