Výsledky vyhledávání - Hashem, Mais

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity Autor Zhang, Kejia, Lentini, Jenna M, Prevost, Christopher T, Hashem, Mais O, Alkuraya, Fowzan S, Fu, Dragony

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination Autor Khan, Arif O., AlAbdi, Lama, Patel, Nisha, Helaby, Rana, Hashem, Mais, Abdulwahab, Firdous, AlBadr, Fahad B., Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD Autor Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.

Získat plný text Získat plný text Získat plný text

The natural history of infantile neuroaxonal dystrophy Autor Altuame, Fadie D., Foskett, Gretchen, Atwal, Paldeep S., Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A., Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly Autor Morrison, Jennifer, Altuwaijri, Norah K., Brønstad, Kirsten, Aksnes, Henriette, Alsaif, Hessa S., Evans, Anthony, Hashem, Mais, Wheeler, Patricia G., Webb, Bryn D., Alkuraya, Fowzan S., Arnesen, Thomas

Získat plný text Získat plný text Získat plný text

Lethal variants in humans: lessons learned from a large molecular autopsy cohort Autor Shamseldin, Hanan E., AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S., Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome Autor Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik

Získat plný text Získat plný text

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms Autor Abu-Safieh, Leen, Abboud, Emad B., Alkuraya, Hisham, Shamseldin, Hanan, Al-Enzi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Colak, Dilek, Jarallah, Abdullah, Ahmad, Hala, Bobis, Steve, Nemer, Georges, Bitar, Fadi, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations, and clinical studies Autor Unlu, Gokhan, Qi, Xinzi, Gamazon, Eric R., Melville, David B., Patel, Nisha, Rushing, Amy R., Hashem, Mais, Al-Faifi, Abdullah, Chen, Rui, Li, Bingshan, Cox, Nancy J., Alkuraya, Fowzan S., Knapik, Ela W.

Získat plný text Získat plný text Získat plný text

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome Autor Aldahmesh, Mohammed A., Li, Yuanyuan, Alhashem, Amal, Anazi, Shams, Alkuraya, Hisham, Hashem, Mais, Awaji, Ali A., Sogaty, Sameera, Alkharashi, Abdullah, Alzahrani, Saeed, Al Hazzaa, Selwa A., Xiong, Yong, Kong, Shanshan, Sun, Zhaoxia, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome Autor Patel, Nisha, Shamseldin, Hanan E., Sakati, Nadia, Khan, Arif O., Softa, Ameen, Al-Fadhli, Fatima M., Hashem, Mais, Abdulwahab, Firdous M., Alshidi, Tarfa, Alomar, Rana, Alobeid, Eman, Wakil, Salma M., Colak, Dilek, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families Autor Shamseldin, Hanan E., Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K., Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Molecular characterization of retinitis pigmentosa in Saudi Arabia Autor Aldahmesh, Mohammed A., Abu Safieh, Leen, Alkuraya, Hisham, Al-Rajhi, Ali, Shamseldin, Hanan, Hashem, Mais, Alzahrani, Fatemah, Khan, Arif O., Alqahtani, Faisal, Rahbeeni, Zuhair, Alowain, Mohammed, Khalak, Hanif, Al-Hazzaa, Salwa, Meyer, Brian F., Alkuraya, Fowzan S.

Získat plný text Získat plný text

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans Autor Aldahmesh, Mohammed A., Khan, Arif O., Alkuraya, Hisham, Adly, Nouran, Anazi, Shamsa, Al-Saleh, Ahmed A., Mohamed, Jawahir Y., Hijazi, Hadia, Prabakaran, Sarita, Tacke, Marlene, Al-Khrashi, Abdullah, Hashem, Mais, Reinheckel, Thomas, Assiri, Abdullah, Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice Autor Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M., Abouelhoda, Mohamed, Colak, Dilek, Murray, Stephen A., Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation Autor Patel, Nisha, Khan, Arif O., Al-Saif, Maher, Moghrabi, Walid N., AlMaarik, Balsam M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Alshidi, Tarfa, Alobeid, Eman, Alomar, Rana A., Al-Harbi, Saad, Abouelhoda, Mohamed, Khabar, Khalid S. A., Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2 Autor Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.

Získat plný text Získat plný text Získat plný text

Warsaw Breakage Syndrome: Further Clinical and Genetic Delineation Autor Alkhunaizi, Ebba, Shaheen, Ranad, Bharti, Sanjay Kumar, Joseph-George, Ann M., Chong, Karen, Abdel-Salam, Ghada M H, Alowain, Mohammed, Blaser, Susan I, Papsin, Blake C, Butt, Mohammed, Hashem, Mais, Martin, Nicole, Godoy, Ruth, Brosh, Robert M., Alkuraya, Fowzan S, Chitayat, David

Získat plný text Získat plný text Získat plný text

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract Autor Patel, Nisha, Anand, Deepti, Monies, Dorota, Maddirevula, Sateesh, Khan, Arif O., Algoufi, Talal, Alowain, Mohammed, Faqeih, Eissa, Alshammari, Muneera, Qudair, Ahmed, Alsharif, Hadeel, Aljubran, Fatimah, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alsedairy, Haifa, Aldahmesh, Mohammed A., Lachke, Salil A., Alkuraya, Fowzan S.

Získat plný text Získat plný text Získat plný text