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1Academic Journal
المؤلفون: Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Mohammed Alghamdi, Jameel, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al-Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al-Owain, Mohammed, Sogaty, Sameera, Zain Seidahmed, Mohammed, Alkuraya, Fowzan S.
المصدر: Genetics in Medicine ; volume 24, issue 4, page 966 ; ISSN 1098-3600
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2Academic Journal
المؤلفون: Alenazi, Mona, Sabico, Shaun, Al-Daghri, Nasser
المصدر: Endocrine Abstracts ; ISSN 1479-6848
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3Academic Journal
المؤلفون: 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.
المساهمون: Computational Bioscience Research Center (CBRC), Computer Science Program, Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division, Structural and Functional Bioinformatics Group, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Département de génétique, AP-HP, Hôpital Bichat, Université de Paris, LVTS INSERM U1148, Paris, France., Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Deparmtent of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Division of Pediatric Gastroenterology, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
وصف الملف: application/pdf
Relation: https://genomebiology.biomedcentral.com/articles/10.1186/s13059-020-02053-9; Maddirevula, S., Kuwahara, H., Ewida, N., Shamseldin, H. E., Patel, N., Alzahrani, F., … Alkuraya, F. S. (2020). Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics. Genome Biology, 21(1). doi:10.1186/s13059-020-02053-9; Genome biology; http://hdl.handle.net/10754/663747; 21
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4Academic Journal
المؤلفون: Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.
المصدر: Genetics in Medicine ; volume 22, issue 6, page 1051-1060 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-020-0761-1
http://www.nature.com/articles/s41436-020-0761-1.pdf
http://www.nature.com/articles/s41436-020-0761-1
https://api.elsevier.com/content/article/PII:S1098360021008327?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021008327?httpAccept=text/plain -
5Academic Journal
المؤلفون: Alenazi, Mona M., Sabico, Shaun, Alnaami, Abdullah M., Wani, Kaiser, Hussain, Syed D., Al-Daghri, Nasser M.
المصدر: Journal of King Saud University - Science; Nov2024, Vol. 36 Issue 10, pN.PAG-N.PAG, 1p
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6Academic Journal
المؤلفون: Shaheen, Ranad, Mark, Paul, Prevost, Christopher T, AlKindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al-Sheddi, Tarfa, Alobeid, Eman, Alenazi, Mona M, Ewida, Nour, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Bryant, Emily M, Spinelli, Egidio, Millichap, John, Barnett, Sarah S, Kearney, Hutton M, Accogli, Andrea, Scala, Marcello, Capra, Valeria, Nigro, Vincenzo, Fu, Dragony, Alkuraya, Fowzan S
المساهمون: Shaheen, Ranad, Mark, Paul, Prevost, Christopher T, Alkindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al-Sheddi, Tarfa, Alobeid, Eman, Alenazi, Mona M, Ewida, Nour, Ibrahim, Niema, Hashem, Mai, Abdulwahab, Firdou, Bryant, Emily M, Spinelli, Egidio, Millichap, John, Barnett, Sarah S, Kearney, Hutton M, Accogli, Andrea, Scala, Marcello, Capra, Valeria, Nigro, Vincenzo, Fu, Dragony, Alkuraya, Fowzan S
مصطلحات موضوعية: CTU2, Mutation, ambiguous genitalia, dysmorphic facie, lissencephaly, microcephaly, polydactyly, renal agenesi, tRNA modification, uridine thiolation
Relation: info:eu-repo/semantics/altIdentifier/pmid/31301155; info:eu-repo/semantics/altIdentifier/wos/WOS:000479469100001; journal:HUMAN MUTATION; http://hdl.handle.net/11591/413133; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073667971
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7
المؤلفون: Sateesh Maddirevula, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, Tarfa AlSheddi, AlObeid, Eman, Alenazi, Mona, Hessa S. Alsaif, Alqahtani, Maha, AlAli, Maha, Hatoon Al Ali, Helaby, Rana, Niema Ibrahim, Firdous Abdulwahab, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Hamoud Alhebbi, Wali, Sami, Ramzan Umarov, Gao, Xin, Alkuraya, Fowzan S.
مصطلحات موضوعية: genetic processes, natural sciences
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8
المؤلفون: Sateesh Maddirevula, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, Tarfa AlSheddi, AlObeid, Eman, Alenazi, Mona, Hessa S. Alsaif, Alqahtani, Maha, AlAli, Maha, Hatoon Al Ali, Helaby, Rana, Niema Ibrahim, Firdous Abdulwahab, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Hamoud Alhebbi, Wali, Sami, Ramzan Umarov, Gao, Xin, Alkuraya, Fowzan S.
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9
المؤلفون: Valeria Capra, Emily Bryant, Sarah S. Barnett, Mais Hashem, Paul R. Mark, Hutton M. Kearney, Tarfa Al-Sheddi, Vincenzo Nigro, Marcello Scala, Niema Ibrahim, John Millichap, Christopher T Prevost, Egidio Spinelli, Ahmad Alhag, Andrea Accogli, Fatima Estwani, Mona M. Alenazi, Nour Ewida, Firdous Abdulwahab, Adila Al-Kindi, Eman Alobeid, Fowzan S. Alkuraya, Ranad Shaheen, Dragony Fu
المساهمون: Shaheen, Ranad, Mark, Paul, Prevost, Christopher T, Alkindi, Adila, Alhag, Ahmad, Estwani, Fatima, Al-Sheddi, Tarfa, Alobeid, Eman, Alenazi, Mona M, Ewida, Nour, Ibrahim, Niema, Hashem, Mai, Abdulwahab, Firdou, Bryant, Emily M, Spinelli, Egidio, Millichap, John, Barnett, Sarah S, Kearney, Hutton M, Accogli, Andrea, Scala, Marcello, Capra, Valeria, Nigro, Vincenzo, Fu, Dragony, Alkuraya, Fowzan S
المصدر: Human mutation. 40(11)
مصطلحات موضوعية: Male, ambiguous genitalia, TRNA modification, Genotype, renal agenesi, CTU2, uridine thiolation, DNA Mutational Analysis, Lissencephaly, Wobble base pair, Biology, Severity of Illness Index, 03 medical and health sciences, Consanguinity, RNA, Transfer, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, microcephaly, Amino Acid Sequence, Allele, Genetics (clinical), Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, tRNA Methyltransferases, Polydactyly, 030305 genetics & heredity, Facies, Genetic Variation, Sequence Analysis, DNA, Syndrome, polydactyly, medicine.disease, Magnetic Resonance Imaging, Radiography, Phenotype, Mutation, Transfer RNA, RNA splicing, dysmorphic facie, Allelic heterogeneity, Female, tRNA modification, lissencephaly
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