Fatima Saif

Dubai, DU, United Arab Emirates

Last Updated: 09/26/2026

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Found 13 publications

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

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

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

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

Journal: BMC pediatrics

Published: April 07, 2016

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Journal: Hormone research in paediatrics

Published: March 11, 2016

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

Journal: European journal of medical genetics

Published: February 15, 2016

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome.

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome.

Journal: Saudi medical journal

Published: February 04, 2016

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

Journal: Irish journal of medical science

Published: December 16, 2015

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.

Journal: Molecular and cellular probes

Published: August 27, 2015

Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Journal: Congenital anomalies

Published: July 30, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026