Genetics and genomic medicine in Saudi Arabia

por Alkuraya, Fowzan S
Publicado 2014

Natural human knockouts and the era of genotype to phenotype

por Alkuraya, Fowzan S
Publicado 2015

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

por Shamseldin, Hanan E., Swaid, Abdulrahman, Alkuraya, Fowzan S.
Publicado 2013

Genetic and genomic analysis of classic aniridia in Saudi Arabia

por Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Publicado 2011

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

por Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Publicado 2011

Population structure of indigenous inhabitants of Arabia

por Mineta, Katsuhiko, Goto, Kosuke, Gojobori, Takashi, Alkuraya, Fowzan S.
Publicado 2021

Revisiting the morbid genome of Mendelian disorders

por Abouelhoda, Mohamed, Faquih, Tariq, El-Kalioby, Mohamed, Alkuraya, Fowzan S.
Publicado 2016

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

por Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
Publicado 2011

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

por Alsalem, Ahmed B., Halees, Anason S., Anazi, Shamsa, Alshamekh, Shomoukh, Alkuraya, Fowzan S.
Publicado 2013

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

por Lentini, Jenna M., Alsaif, Hessa S., Faqeih, Eissa, Alkuraya, Fowzan S., Fu, Dragony
Publicado 2020

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

por Altawil, Lama, Alshihry, Hind, Ahmed, Hala, Shamseldin, Hanan E., Alkuraya, Fowzan
Publicado 2020

A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype

por Aldahmesh, Mohammed A., Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S.
Publicado 2010

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity

por AlFadhli, Suad, Abdelmoaty, Sidky, Al-Hajeri, Amal, Behbehani, Abdulmutalib, Alkuraya, Fowzan
Publicado 2012

Mutations in TMEM231 cause Meckel–Gruber syndrome

por Shaheen, Ranad, Ansari, Shinu, Mardawi, Elham AL, Alshammari, Muneera J, Alkuraya, Fowzan S
Publicado 2013

Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association

por Al Sarkhy, Ahmed, Hassan, Saeed, Alasmi, Mona, Assiri, Asaad Muhammed, Alkuraya, Fowzan S.
Publicado 2014

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutati...

por Altawil, Lama, Alshihry, Hind, Alfaraidi, Huda, Alhashem, Amal, Alhumidi, Ahmed, Alkuraya, Fowzan S.
Publicado 2021

Genomic medicine in the Middle East

por Abou Tayoun, Ahmad N., Fakhro, Khalid A., Alsheikh-Ali, Alawi, Alkuraya, Fowzan S.
Publicado 2021

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

por Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
Publicado 2014

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

por Khan, Arif O., Aldahmesh, Mohammed A., Ghadhfan, Faisal E., Al-Mesfer, Saleh, Alkuraya, Fowzan S.
Publicado 2009

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

por Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.
Publicado 2011