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Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis

Hepatology (Baltimore, Md.), 2018-08, Vol.68 (2), p.590-598

2018

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Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1033-1038

2021

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Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

Clinical genetics, 2021-04, Vol.99 (4), p.577-582

2021

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Propionic acidemia mimicking diabetic ketoacidosis

Brain & development (Tokyo. 1979), 2011-05, Vol.33 (5), p.428-431

2011

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Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4149

2022

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A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Frontiers in genetics, 2014-11, Vol.5, p.397-397

2014

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Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Journal of medical genetics, 2018-09, Vol.55 (9), p.599

2018

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Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene

Brain & development (Tokyo. 1979), 2017-08, Vol.39 (7), p.601-605

2017

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Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency

Cells (Basel, Switzerland), 2021-02, Vol.10 (2), p.452

2021

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Epidemiological and Microbiological Characteristics of an Outbreak Caused by OXA-48-Producing Enterobacteriaceae in a Neonatal Intensive Care Unit in Jerusalem, Israel

Journal of Clinical Microbiology, 2013-09, Vol.51 (9), p.2926-2930

2013

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Ethylmalonic encephalopathy associated with crescentic glomerulonephritis

Metabolic brain disease, 2012-12, Vol.27 (4), p.613-616

2012

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Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease

BMC pediatrics, 2014-12, Vol.14 (1), p.311-311, Article 311

2014

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Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients

Journal of investigative dermatology, 2002-06, Vol.118 (6), p.972-982

2002

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RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

The Journal of clinical investigation, 2022-03, Vol.132 (5), p.1-17

2022

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Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

Genetics in medicine, 2024-04, Vol.26 (4), p.101068, Article 101068

2024

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Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality

American journal of medical genetics. Part A, 2007-03, Vol.143A (6), p.581-583

2007

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Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.579-581

2018

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Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

Journal of medical genetics, 2017-03, Vol.54 (3), p.196

2017

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Growth Hormone Deficiency in Congenital Toxoplasmosis

Journal of child science, 2018-01, Vol.8 (1), p.e43-e45

2018

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Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots

Indian journal of dermatology, 2011-01, Vol.56 (1), p.98-100

2011

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Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1142-1146

2017

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Genetic screening of familial Mediterranean fever mutations in the Palestinian population

Saudi medical journal, 2005-05, Vol.26 (5), p.732

2005

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Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis

Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Propionic acidemia mimicking diabetic ketoacidosis

Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene

Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency

Epidemiological and Microbiological Characteristics of an Outbreak Caused by OXA-48-Producing Enterobacteriaceae in a Neonatal Intensive Care Unit in Jerusalem, Israel

Ethylmalonic encephalopathy associated with crescentic glomerulonephritis

Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease

Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

Growth Hormone Deficiency in Congenital Toxoplasmosis

Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

Genetic screening of familial Mediterranean fever mutations in the Palestinian population

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