المؤلفون: Mary E. McQuaid, Kashif Ahmed, Stephanie Tran, Justine Rousseau, Ranad Shaheen, Kristin D. Kernohan, Kyoko E. Yuki, Prerna Grover, Ema S. Dreseris, Sameen Ahmed, Lucie Dupuis, Jennifer Stimec, Mary Shago, Zuhair N. Al-Hassnan, Roch Tremblay, Philipp G. Maass, Michael D. Wilson, Eyal Grunebaum, Kym M. Boycott, François-Michel Boisvert, Sateesh Maddirevula, Eissa A. Faqeih, Fahad Almanjomi, Zaheer Ullah Khan, Fowzan S. Alkuraya, Philippe M. Campeau, Peter Kannu, Eric I. Campos, Hugo Wurtele

المصدر: JCI Insight, Vol 7, Iss 10 (2022)

مصطلحات موضوعية: Cell biology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/3826d777770e43a3ada9bdd9c34ba315

المؤلفون: Farhan S. Cyprian, Muhammad Suleman, Ibrahim Abdelhafez, Asmma Doudin, Ibn Mohammed Masud Danjuma, Fayaz Ahmad Mir, Aijaz Parray, Zohaib Yousaf, Mohammed Yaseen Ahmed Siddiqui, Alaaedin Abdelmajid, Mohammad Mulhim, Shaikha Al-Shokri, Mohammad Abukhattab, Ranad Shaheen, Eyad Elkord, Abdul Latif Al-khal, Abdel-Naser Elzouki, Guillermina Girardi

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: COVID-19, SARS-CoV-2, C5a anaphylatoxin, blood indices, biomarkers, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.707159/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/6039d3a5a8aa45719fab5f141299d3e8

المؤلفون: Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya

المصدر: Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124714010444; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/50640b009bf24893bb6eadc42e852726

المؤلفون: M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh

المصدر: Cell Reports, Vol 8, Iss 3, Pp 647-655 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124714005233; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/9cd4b10c06d8453cacf637629adde985

المؤلفون: Eyad Elkord, Mohamed Abu Nada, Varun Sasidharan Nair, Reem Saleh, Khaled Murshed, Ranad Shaheen

المصدر: Cancer Immunology, Immunotherapy. 70:2625-2638

مصطلحات موضوعية: Cancer Research, Candidate gene, business.industry, Colorectal cancer, Immunology, Type 2 diabetes, medicine.disease, digestive system diseases, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Oncology, Downregulation and upregulation, Diabetes mellitus, medicine, Cancer research, Immunology and Allergy, Epigenetics, business, CD8, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e54885b70065f5a47132937d0903d47
https://doi.org/10.1007/s00262-021-02879-7

المؤلفون: Fowzan S. Alkuraya, Ranad Shaheen, Dorota Monies, Awad Al Qahtani, Mohammad Shagrani, Muneerah A. Alzouman, Nour Ewida, Homoud A. Al-Hebbi, Eman Alobeid, Mohamed Abouelhoda, Tarfa Al-Sheddi, Abdulrahman Al-Hussaini, Amal Alhashem, Fatema Alzahrani, Saud Alsahli, Hanan E. Shamseldin, Nisha Patel, Eissa Faqeih, Rana Alomar

المصدر: Hepatology. 71:2067-2079

مصطلحات موضوعية: 0301 basic medicine, Cholestasis, Intrahepatic, Biology, Severity of Illness Index, Ciliopathies, Infant, Newborn, Diseases, Diagnosis, Differential, Mice, 03 medical and health sciences, 0302 clinical medicine, Intraflagellar transport, Exome Sequencing, medicine, Animals, Humans, Tetratricopeptide Repeat, Hedgehog Proteins, Neonatal cholestasis, Chromosome 7 (human), Genetics, Hepatology, Genetic heterogeneity, Cilium, Infant, Newborn, Intracellular Signaling Peptides and Proteins, medicine.disease, Phenotype, Protein Transport, Ciliopathy, 030104 developmental biology, Mutation, 030211 gastroenterology & hepatology, Microtubule-Associated Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e65c8a669aba79f52494eecabfb866
https://doi.org/10.1002/hep.30982

المؤلفون: Fowzan S. Alkuraya, Mais Hashem, Joseph G. Gleeson, Tarfa Al-Sheddi, Fatema Alzahrani, Firdous Abdulwahab, Nadia Saqati, Mohammad M. Al-Qattan, Valentina Stanley, Futwan Al-Mohanna, Nour Ewida, Eman Alobeid, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Hamad Al-Zaidan, Ranad Shaheen, Damir Musaev, Niema Ibrahim, Nan Jiang

المصدر: The American Journal of Human Genetics. 104:731-737

مصطلحات موضوعية: Male, Adolescent, Turkey, Genes, Recessive, Biology, Nervous System Malformations, Ciliopathies, Retina, Joubert syndrome, Consanguinity, 03 medical and health sciences, Report, Cerebellum, Ciliogenesis, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Cilia, Eye Abnormalities, Alleles, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Polydactyly, Genetic heterogeneity, Cilium, Homozygote, 030305 genetics & heredity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Orofaciodigital Syndromes, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, Phenotype, Child, Preschool, Mutation, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae46f21cdaf9ed5cb81a3130d68fdd4
https://doi.org/10.1016/j.ajhg.2019.02.018

المؤلفون: Fowzan S. Alkuraya, Maha M. Eid, Ghada M H Abdel-Salam, Nour Ewida, Inas Mazen, Ranad Shaheen

المصدر: American Journal of Medical Genetics Part A. 179:1053-1057

مصطلحات موضوعية: Candidate gene, Microcephaly, DNA Mutational Analysis, Mutation, Missense, Biology, HHAT, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Child, Hedgehog, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Infant, Newborn, Facies, medicine.disease, Magnetic Resonance Imaging, Phenotype, Hedgehog signaling pathway, Child, Preschool, Female, Acyltransferases, Cerebellar Vermis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf9ef0408f664e0ce7154fa5607d689
https://doi.org/10.1002/ajmg.a.61133

المؤلفون: Sadik Oner, Betul Pir, Felix Hoffmann, Betul Altunkaynak, Karsten Boldt, Xiaoyu Peng, Fowzan S. Alkuraya, Sebiha Cevik, Ying Cao, Asli Karaman, Lama Al-Abdi, Marius Ueffing, Franziska Woerz, Ferhan Yenisert, Ranad Shaheen, Miray Cakiroglu, Mustafa S. Pir, Atiyye Zorluer, Oktay I. Kaplan, Tina Beyer

مصطلحات موضوعية: Ciliopathy, BBSome, GTPase-activating protein, biology, Polydactyly, Cilium, medicine, medicine.disease, biology.organism_classification, Zebrafish, Ciliopathies, Phenotype, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::63a6f3e4894f80172c7bc15dca3f1880
https://doi.org/10.21203/rs.3.rs-622797/v1

المؤلفون: Mohammad Abukhattab, Mohammed Yassin Ahmed Siddiqui, Fayaz Mir, Guillermina Girardi, Zohaib Yousaf, Ala Eldin, Aijaz Parray, Mohammad Mulhim, Muhammad Suleman, Farhan S. Cyprian, Ranad Shaheen, Abdul Latif Al-khal, Abdel Naser Al Zouki, Ibn Mohammed Masud Danjuma, Asmma Doudin, Shaikha D. Al-Shokri, Eyad Elkord, Ibrahim Abdelhafez

مصطلحات موضوعية: education.field_of_study, Text mining, Disease severity, Coronavirus disease 2019 (COVID-19), business.industry, Population, Ethnic group, Medicine, Complement C5a, education, business, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b5ade1e3b1a7f28176115b468dc9e827
https://doi.org/10.21203/rs.3.rs-682190/v1

المؤلفون: Kalthoum Tlili-Graiess, Hayley J. Sharpe, Susan Lindsay, Emily V. Fletcher, Geoff Woods, Amal Alhashem, Katherine Schon, Ranad Shaheen, Michael S. Nahorski, Ichrak Drissi, Sarah F. Smithson, Fowzan S. Alkuraya, Steve Lisgo, Alberto Fernández-Jaén

المساهمون: Drissi, Ichrak [0000-0002-8077-2101], Lisgo, Steve [0000-0001-5186-3971], Fernández-Jaén, Alberto [0000-0003-3306-9832], Alkuraya, Fowzan S [0000-0003-4158-341X], Woods, Geoff [0000-0002-8077-2101], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Cerebellum, Immunocytochemistry, cerebellar diseases, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Holoprosencephaly, medicine, Animals, Humans, Hedgehog Proteins, genetics, Sonic hedgehog, Neurogenetics, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Mammals, Genetics, 0303 health sciences, Mutation, biology, congenital, Embryo, Cyclopia, medicine.disease, Phenotype, medicine.anatomical_structure, Type C Phospholipases, biology.protein, and neonatal diseases and abnormalities, mutation, hereditary, 030217 neurology & neurosurgery

وصف الملف: text/xml; application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f3ebfedaf94b9e49a20e3f6d314a4a
https://www.repository.cam.ac.uk/handle/1810/326540

المؤلفون: Reem, Saleh, Varun, Sasidharan Nair, Khaled, Murshed, Mohamed, Abu Nada, Eyad, Elkord, Ranad, Shaheen

المصدر: Cancer immunology, immunotherapy : CII. 70(9)

مصطلحات موضوعية: Gene Expression Profiling, Computational Biology, CD8-Positive T-Lymphocytes, Prognosis, Immunophenotyping, Lymphocytes, Tumor-Infiltrating, Diabetes Mellitus, Type 2, Gene Expression Regulation, Protein Interaction Mapping, Humans, Disease Susceptibility, Colorectal Neoplasms, Transcriptome, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::51578282b9356b41e7470e776d9bc275
https://pubmed.ncbi.nlm.nih.gov/33710369

المؤلفون: Ichrak, Drissi, Emily, Fletcher, Ranad, Shaheen, Michael, Nahorski, Amal M, Alhashem, Steve, Lisgo, Alberto, Fernández-Jaén, Katherine, Schon, Kalthoum, Tlili-Graiess, Sarah F, Smithson, Susan, Lindsay, Hayley, J Sharpe, Fowzan S, Alkuraya, Geoff, Woods

المصدر: Journal of medical genetics. 59(4)

مصطلحات موضوعية: Mammals, Phenotype, Type C Phospholipases, Holoprosencephaly, Mutation, Animals, Humans, Hedgehog Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::02f7502bb2e221ca26da1327e9be75ea
https://pubmed.ncbi.nlm.nih.gov/33820834

المؤلفون: M. Hashem, Mohammed Al-Owain, Arman Khan, A. Al‐Aqeel, Wesam Kurdi, M.A. Aldahmesh, Zuhair Rahbeeni, Hamad Al-Zaidan, Ranad Shaheen, Nisha Patel, Nicola G. Ghazi, Firdous Abdulwahab, S.S. Alzahrani, Eissa Faqeih, Niema Ibrahim, Hisham Alkuraya, Amal Al-Hemidan, M. Abouelhoda, Dorota Monies, Fowzan S. Alkuraya, Tawfeg Ben-Omran, M.Z. Seidahmed, S.R. Nowailaty

المصدر: Clinical Genetics. 94:554-563

مصطلحات موضوعية: 0301 basic medicine, Genotype, Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Workflow, Consanguinity, 03 medical and health sciences, Retinal Dystrophies, Exome Sequencing, Genetics, Humans, Blinding eye, Genetic Predisposition to Disease, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Disease gene, Genetic heterogeneity, Disease gene identification, Phenotype, 030104 developmental biology, Amino Acid Substitution, Deletion mutation, Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba89ec7fb4bc2f041fb27aff8a09790
https://doi.org/10.1111/cge.13426

المؤلفون: Alya Alkaff, Wafaa Eyaid, Nada Alsahan, Rubina Khan, Niema Meriki, Yasser Alsaber, Saeed Al Tala, Mohamed Zain Seidahmed, Fatima Almusafri, Firdous Abdulwahab, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Mariam Al Mulla, Hanan E. Shamseldin, Zeneb A. Babay, Eissa Faqeih, Ahmed Kurdi, Elham Al Mardawi, Karen El-Akouri, Ola Khalifa, Ranad Shaheen, Wesam Kurdi, Nour Ewida, Sebahattin Cirak, Eman Alobeid, Alya Qari, Zuhair Rahbeeni, Matthias Pergande, Maha Alnemer, Maha Tulbah, Bahauddin Sallout, Tarfa Alshidi, Amal Alhashem, Niema Ibrahim, Mais Hashem

المصدر: Genetics in Medicine. 20:420-427

مصطلحات موضوعية: 0301 basic medicine, Prenatal diagnosis, Autopsy, Biology, Workflow, 03 medical and health sciences, symbols.namesake, Pregnancy, Cause of Death, Prenatal Diagnosis, Exome Sequencing, Humans, Genetic Predisposition to Disease, Precision Medicine, Genetic Association Studies, Genetics (clinical), Exome sequencing, Cause of death, Genetics, Fetus, Genetic Diseases, Inborn, ALPL, Phenotype, 030104 developmental biology, Molecular Diagnostic Techniques, Mendelian inheritance, symbols, Female, Genes, Lethal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ac4675b661434f7cd7e50ac6fca273
https://doi.org/10.1038/gim.2017.111

المؤلفون: Farhan S. Cyprian (11828342), Muhammad Suleman (3829027), Ibrahim Abdelhafez (11828345), Asmma Doudin (11828348), Ibn Mohammed Masud Danjuma (11828351), Fayaz Ahmad Mir (11828354), Aijaz Parray (290256), Zohaib Yousaf (9617058), Mohammed Yaseen Ahmed Siddiqui (11828357), Alaaedin Abdelmajid (11828360), Mohammad Mulhim (11828363), Shaikha Al-Shokri (11828366), Mohammad Abukhattab (11828369), Ranad Shaheen (3468482), Eyad Elkord (5396390), Abdul Latif Al-khal (11828372), Abdel-Naser Elzouki (9376853), Guillermina Girardi (340464)

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, COVID-19, SARS-CoV-2, C5a anaphylatoxin, blood indices, biomarkers

Relation: https://figshare.com/articles/dataset/DataSheet_1_Complement_C5a_and_Clinical_Markers_as_Predictors_of_COVID-19_Disease_Severity_and_Mortality_in_a_Multi-Ethnic_Population_docx/17169488

الاتاحة: https://doi.org/10.3389/fimmu.2021.707159.s001

المؤلفون: Mohamed Abu Nada, Eyad Elkord, Varun Sasidharan Nair, Reem Saleh, Khaled Murshed, Ranad Shaheen

المصدر: Cancer Immunology, Immunotherapy. 70:2639-2640

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, business.industry, Colorectal cancer, Immunology, MEDLINE, medicine.disease, Transcriptome, Internal medicine, Diabetes mellitus, Immunology and Allergy, Medicine, business, CD8

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a72191a9a49be320f132f1852b0266f3
https://doi.org/10.1007/s00262-021-02903-w

المؤلفون: Ghada M H Abdel-Salam, Firdous Abdulwahab, Mais Hashem, Neama Meriki, Fahad A. Bashiri, Shams Anazi, Sateesh Maddirevula, Fatema Alzahrani, Mariam Almureikhi, Premala Muthukumarasamy, Niema Ibrahim, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Rifhan Azwani Mazlan, Ranad Shaheen, Meow-Keong Thong

المصدر: Genetics in Medicine. 20:64-68

مصطلحات موضوعية: 0301 basic medicine, Genotype, Population, Saudi Arabia, Genomics, Genome-wide association study, Biology, Genome, 03 medical and health sciences, Loss of Function Mutation, Humans, Genetic Predisposition to Disease, Allele, education, Exome, Alleles, Genetic Association Studies, Genetics (clinical), Genetic association, Genetics, education.field_of_study, Genome, Human, Facies, Genetics, Population, Phenotype, 030104 developmental biology, Human genome, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd57de13f6b8b26728d85b120c479402
https://doi.org/10.1038/gim.2017.78

المؤلفون: Mais Hashem, Dorota Monies, Niema Ibrahim, Hisham Alkhalidi, Firdous Abdulwahab, Ranad Shaheen, Mohammed Al-Owain, Fowzan S. Alkuraya, Ewa Goljan, Stefan T. Arold, Raashda A Sulaiman, Mohamed Abouelhoda, Wesam Kurdi, Mohammed H. Alanazy, Eissa Faqeih, Sateesh Maddirevula

المصدر: Genetics in Medicine. 19:1144-1150

مصطلحات موضوعية: Male, 0301 basic medicine, Population, Saudi Arabia, Genes, Recessive, Consanguinity, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Gene Frequency, Risk Factors, Exome Sequencing, Genotype, Humans, Exome, Genetic Predisposition to Disease, Genetic Testing, Allele, Child, education, Gene, Alleles, Genetics (clinical), Exome sequencing, Genes, Dominant, Genetics, education.field_of_study, Base Sequence, Chromosome Mapping, Genetic Variation, Sequence Analysis, DNA, Phenotype, Pedigree, 030104 developmental biology, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe8c86e5aac4c4dcbbde24f6f2ad175
https://doi.org/10.1038/gim.2017.22

المؤلفون: Muhammad Jameel, Kamal Khan, Ambrin Fatima, Fowzan S. Alkuraya, Ranad Shaheen, Susanne Motameny, Muhammad Sajid Hussain, Shahid Mahmood Baig, Andreas Hahn, Mohammed Al-Owain, Abubakar Moawia, Saba Irshad, Birgit Budde, Farid Ullah, Petra Stöbe, Peter Nürnberg, Amit Kawalia, Angelika A. Noegel, Talia Akram, Konstanze Hörtnagel, Wolfgang Höhne, Sajida Rasool, Syeda Seema Waseem, Zafar Ali, Nour Ewida, Uzma Abdullah

المصدر: Annals of Neurology. 82:562-577

مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Mutation, Biology, medicine.disease, Compound heterozygosity, medicine.disease_cause, Phenotype, 03 medical and health sciences, Midbody, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Missense mutation, Neurology (clinical), Central spindle, 030217 neurology & neurosurgery, Cytokinesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::74a77d888b9164eb1f5ab99fe1fb8233
https://doi.org/10.1002/ana.25044