Zoekresultaten - Alkuraya, Fowzan S

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

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

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

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

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

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

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

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Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations door Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.

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

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

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

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

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

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

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

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

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

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Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation door Alsalem, Ahmed B., Halees, Anason S., Anazi, Shamsa, Alshamekh, Shomoukh, Alkuraya, Fowzan S.

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DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification door Lentini, Jenna M., Alsaif, Hessa S., Faqeih, Eissa, Alkuraya, Fowzan S., Fu, Dragony

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

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