المؤلفون: Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian GEL, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, PY Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Ghayoor Karimiani, Ehsan, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza

مصطلحات موضوعية: Pediatric, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, Human Genome, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Clinical sciences, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/77b7h8njTest

المؤلفون: Kaiyrzhanov, Rauan, Ortigoza-Escobar, Juan Dario, Stringer, Brett W, Ganieva, Manizha, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al-Shammari, Randa, Al-Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor

مصطلحات موضوعية: Clinical sciences, Neurosciences

العلاقة: Movement Disorders; Kaiyrzhanov, R; Ortigoza-Escobar, JD; Stringer, BW; Ganieva, M; Gowda, VK; Srinivasan, VM; Macaya, A; Laner, A; Onbool, E; Al-Shammari, R; Al-Owain, M; Deconinck, N; Vilain, C; Dontaine, P; Self, E; Akram, R; Hussain, G; Baig, SM; Iqbal, J; Salpietro, V; Neshatdoust, M; Kasiri, M; Yesil, G; Uygur, T; Pysden, K; Berry, IR; Alves, CA; Giacomotto, J; Houlden, H; Maroofian, R, Clinical and Molecular Spectrum of Autosomal Recessive CA8 -Related Cerebellar Ataxia, Movement Disorders, 2024; https://hdl.handle.net/10072/430453Test

الإتاحة: https://doi.org/10.1002/mds.29754Test
https://hdl.handle.net/10072/430453Test

المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5f80k46tTest

المؤلفون: Greene, Daniel, Genomics England Research Consortium, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P J, Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D, Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L S, Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L, Morisaki, Hiroko, Ahmed, Zubair M, Birdsey, Graeme M, Freson, Kathleen, Mumford, Andrew, Turro, Ernest

المصدر: Nature Medicine, 29 (3), 679 - 688 (2023-03-16)

مصطلحات موضوعية: PMEPA1 protein, human, Membrane Proteins, Humans, Bayes Theorem, Genotype, Phenotype, Rare Diseases/genetics, Genome-Wide Association Study/methods, Genome-Wide Association Study, Rare Diseases, Biochemistry, Genetics and Molecular Biology (all), General Biochemistry, Genetics and Molecular Biology, General Medicine, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://www.nature.com/articles/s41591-023-02211-z.pdfTest; urn:issn:1078-8956; urn:issn:1546-170X

الوصول الحر: https://orbi.uliege.be/handle/2268/301937Test

المؤلفون: AlAbdi, Lama, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha, Hamid, Halima, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed, Alhashem, Amal, Al Tala, Saeed, Khan, Arif O., Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T., Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S. A., Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes Ramos, Ana, Umer, Husen, Ullah, Ikram, Driguez, Henry Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine, Alkuraya, Fowzan S.

المساهمون: King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia, Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Sanger and Third Generation Sequencing, Bioinformatics, Bioscience Core Lab, Biological and Environmental Science and Engineering (BESE) Division, Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia., Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia, Pediatric Department, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia, Pediatric Department, Neonatal Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia, Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates, Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA, Maternal Fetal Medicine, Security Forces Hospital Program, Riyadh, Saudi Arabia, Vitreoretinal Surgery and Ocular Genetics, Global Eye Care/Specialized Medical Center Hospital, Riyadh, Saudi Arabia, Section of Medical Genetics, King Fahad Medical City, Children’s Specialist Hospital, Riyadh, Saudi Arabia, Metabolic and Genetic Center, King Salman Bin Abdulaziz Medical City, Almadinah Almunwarah, Saudi Arabia, Newborn Screening, Ministry of Health, Eastern Province, Saudi Arabia, Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hos‑ pital and Research Center, Riyadh, Saudi Arabia, Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, SaudiArabia

وصف الملف: application/pdf

العلاقة: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-023-01270-8Test; Genome Medicine; http://hdl.handle.net/10754/696110Test; 15

الإتاحة: https://doi.org/10.1186/s13073-023-01270-8Test
http://hdl.handle.net/10754/696110Test

المؤلفون: AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Al-Sagheir, Afaf I., Mansour, Ahmad M., Alawaji, Ali, Aldhilan, Amal, Alhashem, Amal, Alhemidan, Amal, Nabil, Amira, Khan, Arif O., Aljohar, Aziza, Alsaleem, Badr, Tabarki, Brahim, Lourenco, Charles Marques, Faqeih, Eissa, AlShail, Essam, Almesaifri, Fatima, Mutairi, Fuad Al, Alzaidan, Hamad, Morsy, Heba, Alshihry, Hind, Alkuraya, Hisham, Girisha, Katta Mohan, Al-Fayez, Khawla, Al-Rubeaan, Khalid, kraoua, Lilia, Alnemer, Maha, Tulbah, Maha, Zaki, Maha S., Alfadhel, Majid, Abouelhoda, Mohammed, Nezarati, Marjan M., Al-Qattan, Mohammad, Shboul, Mohammad, Abanemai, Mohammed, Al-Muhaizea, Mohammad A., Al-owain, Mohammed

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-023-40909-3Test
https://www.nature.com/articles/s41467-023-40909-3.pdfTest
https://www.nature.com/articles/s41467-023-40909-3Test

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

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.01.019Test
https://api.elsevier.com/content/article/PII:S1098360022000351?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022000351?httpAccept=text/plainTest

المؤلفون: Breuss, Martin W, Sultan, Tipu, James, Kiely N, Rosti, Rasim O, Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S, Reuter, Miriam S, Jamra, Rami Abou, Trotta, Christopher R, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 99(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Cerebellar Diseases, Child, Child, Preschool, Endonucleases, Female, Genes, Recessive, Humans, Infant, Infant, Newborn, Male, Microcephaly, Models, Molecular, Mutation, Pedigree, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5rp3661jTest

المؤلفون: Aldalaan, Abdullah M., Ramzan, Khushnooda, Saleemi, Sarfraz A., Weheba, Ihab, Alquait, Laila, Abdelsayed, Abeer, Alzubi, Fatima, Zaytoun, Hamdeia, Alharbi, Nadeen, Al‐Owain, Mohammed, Imtiaz, Faiqa

المصدر: Pulmonary Circulation ; volume 11, issue 3, page 1-8 ; ISSN 2045-8940 2045-8940

الإتاحة: https://doi.org/10.1177/20458940211032057Test

المؤلفون: Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Asiri, Abdulaziz, Al Tuwaijri, Abeer, Alhamoudi, Khaloud, Alyafee, Yusra, Al-Owain, Mohammed

المصدر: Molecular Syndromology ; volume 12, issue 3, page 133-140 ; ISSN 1661-8769 1661-8777

الإتاحة: https://doi.org/10.1159/000513829Test
https://karger.com/msy/article-pdf/12/3/133/3909173/000513829.pdfTest