S. Ansari

发表

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

F. Alkuraya, R. Shaheen, W. Eyaid, 2013, Journal of Medical Genetics.

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

F. Alkuraya, C. Farra, E. Faqeih, 2012, European Journal of Human Genetics.

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

F. Alkuraya, E. Faqeih, K. Keppler-Noreuil, 2013, American journal of human genetics.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

F. Alkuraya, E. Faqeih, A. Alazami, 2012, Journal of Medical Genetics.

T (brachyury) is linked to a Mendelian form of neural tube defects in humans

F. Alkuraya, E. Alshail, R. Shaheen, 2015, Human Genetics.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Colin A. Johnson, N. Katsanis, F. Alkuraya, 2014, American journal of human genetics.

Mutations in TMEM231 cause Meckel–Gruber syndrome

F. Alkuraya, R. Shaheen, M. Alshammari, 2013, Journal of Medical Genetics.

Pellagra‐like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

H. Hassan, M. Mukhtar, H. Hijazi, 2015, Clinical genetics.

Genomic analysis of primordial dwarfism reveals novel disease genes

F. Alkuraya, E. Faqeih, Z. Al-Hassnan, 2014, Genome research.

A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome

F. Alkuraya, E. Faqeih, R. Shaheen, 2013, neurogenetics.