Fatma Bastaki

Dubai, DU, United Arab Emirates

Last Updated: 09/26/2026

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Found 22 publications

Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population.

Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population.

Journal: Journal of pediatric genetics

Published: December 03, 2020

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Journal: European journal of medical genetics

Published: September 12, 2018

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Journal: Oman journal of ophthalmology

Published: November 10, 2017

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).

Journal: Metabolic brain disease

Published: September 20, 2017

Novel SPG20 mutation in an extended family with Troyer syndrome.

Novel SPG20 mutation in an extended family with Troyer syndrome.

Journal: Metabolic brain disease

Published: May 14, 2017

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Journal: Annals of human genetics

Published: March 20, 2017

Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.

Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.

Journal: European journal of medical genetics

Published: February 22, 2017

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

Journal: BMC medical genetics

Published: November 24, 2016

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Journal: International journal of dermatology

Published: August 11, 2016

Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Journal: Metabolic brain disease

Published: June 17, 2016

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.

Journal: Medical principles and practice : international journal of the Kuwait University, Health Science Centre

Published: May 11, 2016

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: May 10, 2016

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Last Updated: 09/26/2026