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1دورية أكاديمية
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101228- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: LYST, rare disorders, monogenic diseases, oculocutaneous albinism, splicing abnormalities, personalized medicine, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المصدر: Case Reports in Genetics, Vol 2022 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-6552
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4دورية أكاديمية
المؤلفون: Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
مصطلحات موضوعية: Alström syndrome, Guidelines, Rare disease, Blindness, Deafness, Cardiomyopathy, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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6دورية أكاديمية
المؤلفون: Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang
المصدر: JIMD Reports, Vol 51, Iss 1, Pp 17-24 (2020)
مصطلحات موضوعية: cblC, cobalamin C, combined methylmalonic acidemia and homocystinuria, Hydroxocobalamin, intracellular cobalamin metabolism, MMACHC, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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7دورية أكاديمية
المؤلفون: Ohad Etzion, Varun Takyar, Victor Novack, Ahmed M. Gharib, Raissa Canales, Akeem Adebogun, Eric Matsumoto, Jason L. Eccleston, David E. Kleiner, Sergio D. Rosenzweig, Meral Gunay‐Aygun, Gulbu Uzel, Ivan Fuss, Richard Childs, Steven M. Holland, Elliot B. Levy, T. Jake Liang, Theo Heller, Christopher Koh
المصدر: Hepatology Communications, Vol 2, Iss 8, Pp 923-932 (2018)
مصطلحات موضوعية: Diseases of the digestive system. Gastroenterology, RC799-869
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2471-254X
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8دورية أكاديمية
المؤلفون: Helen Louise May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Patnaik, Quanlong Lu, Poulomi Banerjee, Jason Silver, Christine Insinna-Kettenhofen, Dishita Patel, Mostafa Lotfi, May Malicdan, Nathan Hotaling, Arvydas Maminishkis, Rupa Sridharan, Brian Brooks, Kiyoharu Miyagishima, Meral Gunay-Aygun, Rajarshi Pal, Christopher Westlake, Sheldon Miller, Ruchi Sharma, Kapil Bharti
المصدر: Cell Reports, Vol 22, Iss 1, Pp 189-205 (2018)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop
المصدر: Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)
مصطلحات موضوعية: ciliopathies, LCA, Joubert syndrome, retinal degeneration, organoid, iPSC, Hedgehog signaling, ciliogenesis, ciliary transition zone, primary cilia, Biology (General), QH301-705.5
وصف الملف: electronic resource
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10
المؤلفون: RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun
المصدر: Am J Med Genet C Semin Med Genet
مصطلحات موضوعية: Adult, Male, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Article, Retina, Cerebellum, Genetics, Humans, Muscle Hypotonia, Abnormalities, Multiple, Female, Eye Abnormalities, Child, Physical Examination, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51deaad35ee307542c96f454a29d3d4
https://doi.org/10.1002/ajmg.c.31966