المؤلفون: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J

المصدر: American Journal of Medical Genetics Part A. 185(6)

مصطلحات موضوعية: Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann‐, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0xp4224dTest

المؤلفون: Mendelsohn, Bryce A, Beleford, Daniah T, Abu‐El‐Haija, Aya, Alsaleh, Norah S, Rahbeeni, Zuhair, Martin, Pierre‐Marie, Rego, Shannon, Huang, Alyssa, Capodanno, Gina, Shieh, Joseph T, Van Ziffle, Jessica, Risch, Neil, Alkuraya, Fowzan S, Slavotinek, Anne M

المصدر: American Journal of Medical Genetics Part A. 182(3)

مصطلحات موضوعية: Pediatric, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Diseases, X-Linked, Genetic Predisposition to Disease, Humans, Male, Mutation, Trichothiodystrophy Syndromes, X Chromosome Inactivation, RNF113A, spliceosome, trichothiodystrophy, zinc finger, RNF113A, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/17b4j483Test

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: AlBakheet, Albandary, AlQudairy, Hanan, Alkhalifah, Joud, Almoaily, Sheikhah, Kaya, Namik, Rahbeeni, Zuhair

المساهمون: King Salman Center for Disability Research

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2022.1044936Test

المؤلفون: AlAbdi, Lama^1,2 (AUTHOR), Rahbeeni, Zuhair³ (AUTHOR), Maddirevula, Sateesh² (AUTHOR), Helaby, Rana² (AUTHOR), Abdulwahab, Firdous² (AUTHOR), Khan, Arif O.^4,5 (AUTHOR), Riley, Lisa G.^6,7 (AUTHOR), Alhashem, Amal^8,9,10 (AUTHOR), Chassaing, Nicolas^11,12 (AUTHOR), Jamieson, Robyn V.^13,14 (AUTHOR), Alkuraya, Fowzan S.^2,8,9 (AUTHOR) falkuraya@kfshrc.edu.sa

المصدر: Clinical Genetics. Jul2024, Vol. 106 Issue 1, p66-71. 6p.

مصطلحات موضوعية: *PULMONARY hypoplasia, *HUMAN abnormalities, *SYNDROMES, *SELF-expression, *MICROPHTHALMIA, *PHENOTYPES

المؤلفون: Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P, Bjornsson, Hans T, Harris, Jacqueline, Dyment, David A, Graham, Gail E, Nezarati, Marjan M, Aul, Ritu B, Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S, Alsaif, Hessa S, Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C, Shashi, Vandana, Sanchez-Lara, Pedro A, Graham, John M, Roberts, Amy, Chorin, Odelia, Evrony, Gilad D, Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A, Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A Micheil, Kline, Antonie D, Au, PY Billie, Weksberg, Rosanna

مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, epigenetics, episignature, neurodevelopmental disorder, Abnormalities, Multiple, Chromatin, DNA Methylation, Epigenesis, Genetic, Face, Hematologic Diseases, Heterogeneous-Nuclear Ribonucleoprotein K, Humans, Intellectual Disability, Phenotype, Vestibular Diseases

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/361022Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/361022Test

المؤلفون: Alfadhel, Majid, Abadel, Basma, Almaghthawi, Hind, Umair, Muhammad, Rahbeeni, Zuhair, Faqeih, Eissa, Almannai, Mohammed, Alasmari, Ali, Saleh, Mohammed, Eyaid, Wafaa, Alfares, Ahmed, Al Mutairi, Fuad

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2022.880464Test

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: Dasouki, Majed, Alaiya, Ayodeele, ElAmin, Tanziel, Shinwari, Zakia, Monies, Dorota, Abouelhoda, Mohamed, Jabaan, Amjad, Almourfi, Feras, Rahbeeni, Zuhair, Alsohaibani, Fahad, Almohareb, Fahad, Al-Zahrani, Hazzaa, Guzmán Vega, Francisco J., Arold, Stefan T., Aljurf, Mahmoud, Ahmed, Syed Osman

المساهمون: Biological and Environmental Science and Engineering (BESE) Division, Bioscience Program, Computational Bioscience Research Center (CBRC), Structural Biology and Engineering, Department of Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh Saudi Arabia., Saudi Human Genome Program. King Abdulaziz Center for Science & Technology, Riyadh, Saudi Arabia., Department of Stem Cell Therapy. Proteomics Program. King Faisal Specialist Hospital and Research Center, Riyadh Saudi Arabia., Department of Medical Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh Saudi Arabia., Department of Internal Medicine, King Faisal Specialist Hospital, and Research Center, Riyadh Saudi Arabia., Adult hematology/BMT, King Faisal Specialist Hospital and Research Center, Riyadh Saudi Arabia., Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France.

وصف الملف: application/pdf

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S2589004221001826Test; Dasouki, M., Alaiya, A., ElAmin, T., Shinwari, Z., Monies, D., Abouelhoda, M., … Ahmed, S. O. (2021). Comprehensive multi-omics analysis of G6PC3 deficiency related congenital neutropenia with inflammatory bowel disease. iScience, 102214. doi:10.1016/j.isci.2021.102214; iScience; 102214; http://hdl.handle.net/10754/667720Test

الإتاحة: https://doi.org/10.1016/j.isci.2021.102214Test
http://hdl.handle.net/10754/667720Test

المؤلفون: Shamseldin, Hanan E., AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S., Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Aldhalaan, Hesham, Alfaifi, Abdullah, Alhashem, Amal, Alhasan, Khalid, Alnemer, Maha, Alsahan, Nada, Alyamani, Suad, Alzaidan, Hamad, Brownyn, Kerr, Condie, Angela, Faqeih, Eissa, Khan, Rubina, Kurdi, Wesam, Muthaffar, Osama, Nabil, Amira, Newman, William, Al-Qattan, Mohammad M., Rahbeeni, Zuhair, Sunbul, Rawda, Temsah, Mohamad-Hani, Tulbah, Maha, Zain, Mohammed, Alkuraya, Fowzan S.

المصدر: Genome Medicine ; volume 13, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-021-00973-0Test