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Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

BMJ open, 2019-09, Vol.9 (9), p.e026351-e026351

2019

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.209-209, Article 209

2019

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Effect of consanguinity on birth defects in Saudi women: Results from a nested case-control study

Birth defects research. A Clinical and molecular teratology, 2015-02, Vol.103 (2), p.100-104

2015

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Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

Journal of medical genetics, 2024-08, Vol.61 (10), p.992-998

2024

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Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Journal of medical genetics, 2020-04, Vol.57 (4), p.274-282

2020

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Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Journal of medical genetics, 2022-04, Vol.59 (4), p.358-365

2022

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Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study

Saudi medical journal, 2020-07, Vol.41 (7), p.703-708

2020

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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children

Saudi medical journal, 2020-02, Vol.41 (2), p.199-202

2020

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The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2455-2463

2021

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Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia

Saudi medical journal, 2020-01, Vol.41 (1), p.98-101

2020

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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

Clinical genetics, 2019-05, Vol.95 (5), p.631-633

2019

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Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome

Curēus (Palo Alto, CA), 2020-01

2020

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Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome

Neurosciences, 2020-08, Vol.25 (4), p.287-291

2020

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Crisponi/CISS1 syndrome: A case series

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1236-1241

2016

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Neuroregression, coarse features, and oligosaccharides in urines

Neurosciences, 2017-10, Vol.22 (4), p.325-327

2017

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Neurological expression of an inherited translocation of chromosomal 1 and 7

Neurosciences, 2017-01, Vol.22 (1), p.62-64

2017

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Patterns, prevalence, risk factors, and survival of newborns with congenital heart defects in a Saudi population: a three-year, cohort case-control study

Journal of Congenital Cardiology, 2019-03, Vol.3 (1), p.1, Article 2

2019

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Brain (London, England : 1878), 2022-04, Vol.145 (3), p.909-924

2022

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Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis

Saudi medical journal, 2020-02, Vol.41 (2), p.199-202

2020

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Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia

Saudi medical journal, 2020-01, Vol.41 (1), p.98-101

2020

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Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia

Saudi medical journal, 2020-07, Vol.41 (7), p.703-708

2020

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Neuroregression, coarse features, and oligosaccharides in urines

Neurosciences (Riyadh, Saudi Arabia), 2017-10, Vol.22 (4), p.326-328

2017

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Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction

JAAD Case Reports, 2024-01, Vol.43, p.76-79

2024

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Recessive AFG3L2 mutation causes progressive microcephaly, early onset seizures, spasticity, and basal ganglia involvement

Pediatric neurology, 2017-06, Vol.71, p.24-28

2017

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Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Effect of consanguinity on birth defects in Saudi women: Results from a nested case-control study

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study

Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings

Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia

Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome

Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome

Crisponi/CISS1 syndrome: A case series

Neuroregression, coarse features, and oligosaccharides in urines

Neurological expression of an inherited translocation of chromosomal 1 and 7

Patterns, prevalence, risk factors, and survival of newborns with congenital heart defects in a Saudi population: a three-year, cohort case-control study

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis

Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia

Neuroregression, coarse features, and oligosaccharides in urines

Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction

Recessive AFG3L2 mutation causes progressive microcephaly, early onset seizures, spasticity, and basal ganglia involvement

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