Bilaketaren emaitzak - Al-Sheddi, Tarfa

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome nork Shaheen, Ranad, Faqeih, Eissa, Sunker, Asma, Morsy, Heba, Al-Sheddi, Tarfa, Shamseldin, Hanan E., Adly, Nouran, Hashem, Mais, Alkuraya., Fowzan S.

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PUS7 Mutations Impair Pseudouridylation in Humans and Cause Intellectual Disability and Microcephaly nork Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdulsalam, Ghada, Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S

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POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism nork Shaheen, Ranad, Faqeih, Eissa, Shamseldin, Hanan E., Noche, Ramil R., Sunker, Asma, Alshammari, Muneera J., Al-Sheddi, Tarfa, Adly, Nouran, Al-Dosari, Mohammed S., Megason, Sean G., Al-Husain, Muneera, Al-Mohanna, Futwan, Alkuraya, Fowzan S.

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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay nork Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

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Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans nork Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics nork Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.

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Genomic and phenotypic delineation of congenital microcephaly nork Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S.

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