N. Tawfiq

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 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.

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 -).

Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation

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

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.

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.