I. Mahmoud

发表

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

T. Ideker, J. Al-Aama, Matan Hofree, 2014, Science.

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study

I. Mahmoud, L. Selim, M. Girgis, 2016, Journal of medical screening.

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.

I. Mahmoud, L. Selim, M. Girgis, 2014, Clinical biochemistry.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

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

P. Bauer, A. Rolfs, T. Ben-Omran, 2019, Orphanet Journal of Rare Diseases.

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

J. Gleeson, H. El-Bassyouni, M. Zaki, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Lysosomal Storage Disorders in Egyptian Children

I. Mahmoud, L. Selim, N. Soliman, 2016, The Indian Journal of Pediatrics.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

S. Kapoor, C. Ferreira, S. Ozen, 2020, Human mutation.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

J. Gargus, S. Cederbaum, G. Enns, 2015, Genetics in Medicine.

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

I. Mahmoud, L. Selim, Marwa Salah Mahmoud, 2014, Pediatric neurology.

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

S. Gabriel, J. Gleeson, A. Fenstermaker, 2015, Clinical genetics.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients

I. Mahmoud, L. Selim, Yara Shaheen, 2023, American journal of medical genetics. Part A.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

J. Gargus, S. Cederbaum, G. Enns, 2015, Genetics in Medicine.

Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations

A. Rolfs, J. Gleeson, M. Zaki, 2018, Clinical Genetics.