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1دورية أكاديمية
المؤلفون: Mohammad El Mouzan, Asaad Assiri, Ahmed Al Sarkhy, Mona Alasmi, Anjum Saeed, Abdulrahman Al-Hussaini, Badr AlSaleem, Mohammad Al Mofarreh
المصدر: PLoS ONE, Vol 17, Iss 1 (2022)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Badr Alsaleem, Nora Albanyan, Ahmad Alamer, Syed Mohammed Basheeruddin Asdaq, Yahya Mohzari, Mohannad M. Alrahili, Amna B. Albasheer, Ahmed A. Alrashed, Abdulhakeem S. Alamri, Walaa F. Alsanie, Majid Alhomrani
المصدر: Journal of King Saud University: Science, Vol 33, Iss 8, Pp 101601- (2021)
مصطلحات موضوعية: Intestinal failure, Iron deficiency anemia, Oral iron, Total parenteral nutrition, Children, Ferritin, Science (General), Q1-390
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1018364721002639Test; https://doaj.org/toc/1018-3647Test
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3دورية أكاديمية
المؤلفون: Abdulrahman Al-Hussaini, Badr AlSaleem, Hamad AlHomaidani, Ali Asery, Muhanad Alruwaithi, Mohammed Alameer, Waleed Afashah, Bashir Muhammed Salman, Naif Almontashiri
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: Dubin-Johnson syndrome, ABCC2 gene, Saudi Arabia, neonatal cholestasis, direct hyperbilirubinemia, normal alanine aminotransferase, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.741835/fullTest; https://doaj.org/toc/2296-2360Test
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4دورية أكاديمية
المؤلفون: Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya
المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
مصطلحات موضوعية: Negative WES, RNA-based diagnostics, Mapping, Mendelian, Transcriptomics, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13059-020-02053-9Test; https://doaj.org/toc/1474-760XTest
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5دورية أكاديمية
المؤلفون: Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Routine diagnostics, Genetic diagnosis, Exome sequencing, Primary immunodeficiencies, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-019-0649-3Test; https://doaj.org/toc/1756-994XTest
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6دورية أكاديمية
المؤلفون: Sinan Holdar, Badr Alsaleem, Ali Asery, Abdulrahman Al-Hussaini
المصدر: The Saudi Journal of Gastroenterology, Vol 25, Iss 3, Pp 176-180 (2019)
مصطلحات موضوعية: Biliary atresia, cholestasis, Kasai, late referral, liver transplant, outcome, portoenterostomy, Diseases of the digestive system. Gastroenterology, RC799-869
وصف الملف: electronic resource
العلاقة: http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2019;volume=25;issue=3;spage=176;epage=180;aulast=HoldarTest; https://doaj.org/toc/1319-3767Test; https://doaj.org/toc/1998-4049Test
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7دورية أكاديمية
المؤلفون: Amna Ahmed, Badr Alsaleem
المصدر: Case Reports in Pediatrics, Vol 2017 (2017)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Amna Ahmed, Badr Alsaleem
المصدر: Case Reports in Pediatrics, Vol 2017 (2017)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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9
المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development
المصدر: Nature genetics. Nature Publishing Group
مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test -
10
المؤلفون: Andreas R. Janecke, Lukas A. Huber, Roberto Adachi, Valeria Strauß, Anuradha Ganesh, Siham Al Sinani, Martha P. Schatz, Roger Janz, Badr AlSaleem, Martin Walter Laass, Majid Alfadhel, Sumanth Punuru, Elizabeth Sanchez, Xiaoqin Liu, Naveen Mittal, Fowzan S. Alkuraya, Ujwala S. Saboo, Rüdiger Adam, Sana Al Zuhaibi, Klaus Rohrschneider, Fathiya Al Murshedi, Thomas Müller, Ruth Heidelberger, Johanna C. Escher, Arne Viestenz
المساهمون: Pediatrics
المصدر: Human Genetics, 140(8), 1143-1156. Springer-Verlag
Human Geneticsمصطلحات موضوعية: chemistry.chemical_compound, Mice, 0302 clinical medicine, Mucolipidoses, Enteropathy, Intestinal Mucosa, Genetics (clinical), Exome sequencing, Original Investigation, Genetics, Aged, 80 and over, Mice, Knockout, 0303 health sciences, Microvilli, Qa-SNARE Proteins, Homozygote, Eye Diseases, Hereditary, Disease gene identification, Phenotype, medicine.anatomical_structure, Knockout mouse, Retinal Cone Photoreceptor Cells, Female, Autopsy, Co-Repressor Proteins, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Malabsorption Syndromes, SDG 3 - Good Health and Well-being, Retinal Dystrophies, Exome Sequencing, medicine, Animals, Humans, Sensory Rhodopsins, RNA, Messenger, Outer nuclear layer, 030304 developmental biology, Aged, Retinal, medicine.disease, Human genetics, Alcohol Oxidoreductases, chemistry, Gene Expression Regulation, sense organs, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61dc5a4535447fa78f5680c9aee003e4Test
http://www.scopus.com/inward/record.url?scp=85105860540&partnerID=8YFLogxKTest
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