F. Bastaki

发表

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

F. Bastaki, S. Bizzari, S. Hamici, 2018, Annals of human genetics.

Novel SPG20 mutation in an extended family with Troyer syndrome

F. Bastaki, S. Bizzari, P. Nair, 2017, Metabolic Brain Disease.

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

F. Bastaki, P. Nair, M. Mohamed, 2017, Medical Principles and Practice.

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

F. Bastaki, P. Nair, M. Mohamed, 2017, BMC Pediatrics.

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.

F. Bastaki, S. Hamici, M. Khalifa, 2017, European journal of medical genetics.

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

F. Bastaki, P. Nair, M. Mohamed, 2016, Molecular and cellular probes.

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

F. Bastaki, P. Nair, M. Mohamed, 2016, Congenital anomalies.

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

F. Bastaki, S. Bizzari, P. Nair, 2017, International journal of dermatology.

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

B. Ali, A. Souid, F. Bastaki, 2013, JIMD reports.

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

F. Bastaki, M. Khalifa, H. S. Elabd, 2021, Journal of Pediatric Genetics.

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

F. Bastaki, F. Saif, A. R. Hamzeh, 2016, Saudi medical journal.

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

F. Bastaki, P. Nair, M. Mohamed, 2017, Irish Journal of Medical Science (1971 -).

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

F. Bastaki, P. Nair, M. Mohamed, 2018, Metabolic Brain Disease.

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation

F. Bastaki, P. Nair, M. Mohamed, 2016, American journal of medical genetics. Part A.

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome

F. Bastaki, S. Bizzari, P. Nair, 2017, Pediatrics international : official journal of the Japan Pediatric Society.

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

F. Bastaki, P. Nair, M. Mohamed, 2016, Metabolic Brain Disease.

Expanded PCH1D phenotype linked to EXOSC9 mutation.

F. Bastaki, S. Bizzari, M. Mohamed, 2019, European journal of medical genetics.

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

F. Bastaki, P. Nair, M. Mohamed, 2017, BMC Medical Genetics.

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

F. Bastaki, P. Nair, M. Mohamed, 2016, European journal of medical genetics.

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region

F. Bastaki, P. Nair, M. Mohamed, 2016, Medical Principles and Practice.

Neonate with permanent neonatal diabetes mellitus; a very rare homozygous missense mutation in the glucokinase gene

A. Zakaria, F. Bastaki, K. El-Atawi, 2019, Journal of Pediatrics & Neonatal Care.

Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa

F. Bastaki, P. Nair, E. M. Malik, 2017, Oman journal of ophthalmology.

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

F. Bastaki, P. Nair, M. Mohamed, 2016, Hormone Research in Paediatrics.

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis

F. Bastaki, P. Nair, M. Mohamed, 2016, Metabolic Brain Disease.

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

F. Bastaki, P. Nair, M. Mohamed, 2016, European journal of medical genetics.