Resultados da pesquisa - Alkuraya, Fowzan

Vogel and Motulsky's Human Genetics, 4(th) Edition Por Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral

Saudi genetic ophthalmology research: The local and global impact Por Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

Genetics and genomic medicine in Saudi Arabia Por Alkuraya, Fowzan S

Obter o texto integral Obter o texto integral Obter o texto integral

Natural human knockouts and the era of genotype to phenotype Por Alkuraya, Fowzan S

Obter o texto integral Obter o texto integral Obter o texto integral

2020 Curt Stern Award address: a more perfect clinical genome—how consanguineous populations contribute to the medical annotation of the human genome Por Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing Por Shamseldin, Hanan E., Swaid, Abdulrahman, Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

Genetic and genomic analysis of classic aniridia in Saudi Arabia Por Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral

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.

Obter o texto integral Obter o texto integral

Indigenous Arabs have an intermediate frequency of a Neanderthal‐derived COVID‐19 risk haplotype compared with other world populations Por Mineta, Katsuhiko, Goto, Kosuke, Gojobori, Takashi, Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

Population structure of indigenous inhabitants of Arabia Por Mineta, Katsuhiko, Goto, Kosuke, Gojobori, Takashi, Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

Revisiting the morbid genome of Mendelian disorders Por Abouelhoda, Mohamed, Faquih, Tariq, El-Kalioby, Mohamed, Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) Por Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? Por Sewairi, Wafaa, Assiri, Abdulrahman, Patel, Nisha, Alhashem, Amal, Alkuraya, Fowzan S

Obter o texto integral Obter o texto integral Obter o texto integral

Response to Yehia et al. Por Siraj, Abdul K., Masoodi, Tariq, Alkuraya, Fowzan S., Al-Kuraya, Khawla S.

Obter o texto integral Obter o texto integral Obter o texto integral

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis Por Alanzi, Talal, Alhashem, Amal, Dagriri, Khalid, Alzahrani, Fatema, Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Por Shaheen, Ranad, Al-Owain, Mohammed, Sakati, Nadia, Alzayed, Zayed S., Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral Obter o texto integral

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Por Shaheen, Ranad, Al-Owain, Mohammed, Sakati, Nadia, Alzayed, Zayed S., Alkuraya, Fowzan S.

Obter o texto integral Obter o texto integral

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.

Obter o texto integral Obter o texto integral Obter o texto integral

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

Obter o texto integral Obter o texto integral Obter o texto integral

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita Por Altawil, Lama, Alshihry, Hind, Ahmed, Hala, Shamseldin, Hanan E., Alkuraya, Fowzan

Obter o texto integral Obter o texto integral Obter o texto integral