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1دورية أكاديمية
المؤلفون: Essam AlShail, Ahmed Nasser Alahmari, Anas A. M. Dababo, Maysoon Alsagob, Hindi Al-Hindi, Hala Khalil, Zainab Al Masseri, Razan AlSalamah, Ethar Almohseny, Amjad Alduhaish, Dilek Colak, Namik Kaya
المصدر: Frontiers in Oncology, Vol 13 (2023)
مصطلحات موضوعية: pilomyxoid astrocytoma, BRAF, KIAA1549, copy number alteration, pilocytic astrocytoma, genomics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1034292/fullTest; https://doaj.org/toc/2234-943XTest
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2دورية أكاديمية
المؤلفون: Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya
المصدر: JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
مصطلحات موضوعية: ATP production, deep brain stimulation, mitochondrial oxygen consumption, SLC25A42, truncation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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3دورية أكاديمية
المؤلفون: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya
المصدر: Cells, Vol 11, Iss 19, p 3154 (2022)
مصطلحات موضوعية: RTN4IP1, founder variant, missense, age of variant, encephalopathy, optic atrophy, Cytology, QH573-671
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak, Namik Kaya
المصدر: Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
مصطلحات موضوعية: 15q13.3 syndrome, Consecutive deletions, High IQ, CHRNA7, Hyperactivity, Cognitive impairment, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13039-019-0432-6Test; https://doaj.org/toc/1755-8166Test
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5دورية أكاديمية
المؤلفون: Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya
المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: Congenital heart disease, Cervical ankylosis, Hypoplastic thumb, Osteopenia, Fused central vertebrae, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13039-018-0356-6Test; https://doaj.org/toc/1755-8166Test
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6دورية أكاديمية
المؤلفون: Sezer Acar, Huda A BinEssa, Korcan Demir, Roua A Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F Al-Enezi, Seçil Özışık, Manar S A Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E Tamimi, Brian F Meyer, Ece Böber, Yufei Shi
المصدر: PLoS ONE, Vol 13, Iss 3, p e0193388 (2018)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5837132?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
المساهمون: Clinical Genetics, Neurology, Internal Medicine
المصدر: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9Test
Acta Neuropathologica. Springer-Verlagمصطلحات موضوعية: Cellular and Molecular Neuroscience, AMFR, Zebrafish disease modeling, Neurology, Whole genome sequencing, Precision medicine, Genetics, Hereditary spastic paraplegia, Cholesterol metabolism, Statin, Neurology (clinical), Pathology and Forensic Medicine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238Test
https://doi.org/10.1007/s00401-023-02579-9Test -
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المؤلفون: Mustafa A. Salih, Muddathir H. Hamad, Marco Savarese, Ibrahim A. Alorainy, Abdullah S. Al-Jarallah, Hisham Alkhalidi, Hanan AlQudairy, Anoud Albader, Amal Jahz Alotaibi, Maysoon Alsagob, Albandary Al-Bakheet, Dilek Colak, Bjarne Udd, Namik Kaya
المصدر: Genetic Testing and Molecular Biomarkers. 25:757-764
مصطلحات موضوعية: General Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::10dd34776b6b84cac76c375a9a086b10Test
https://doi.org/10.1089/gtmb.2021.0085Test -
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المؤلفون: Essam AlShail, Ahmed Nasser Alahmari, Anas A. M. Dababo, Maysoon Alsagob, Hindi Al-Hindi, Hala Khalil, Zainab Al Masseri, Razan AlSalamah, Ethar Almohseny, Amjad Alduhaish, Dilek Colak, Namik Kaya
مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, pilomyxoid astrocytoma, BRAF, KIAA1549, copy number alteration, pilocytic astrocytoma, genomics, brain tumor, gene network
الإتاحة: https://doi.org/10.3389/fonc.2023.1034292.s002Test
https://figshare.com/articles/dataset/Table_1_A_molecular_study_of_pediatric_pilomyxoid_and_pilocytic_astrocytomas_Genome-wide_copy_number_screening_retrospective_analysis_of_clinicopathological_features_and_long-term_clinical_outcome_docx/22084472Test -
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المؤلفون: Essam AlShail, Ahmed Nasser Alahmari, Anas A. M. Dababo, Maysoon Alsagob, Hindi Al-Hindi, Hala Khalil, Zainab Al Masseri, Razan AlSalamah, Ethar Almohseny, Amjad Alduhaish, Dilek Colak, Namik Kaya
مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, pilomyxoid astrocytoma, BRAF, KIAA1549, copy number alteration, pilocytic astrocytoma, genomics, brain tumor, gene network
الإتاحة: https://doi.org/10.3389/fonc.2023.1034292.s001Test
https://figshare.com/articles/dataset/DataSheet_1_A_molecular_study_of_pediatric_pilomyxoid_and_pilocytic_astrocytomas_Genome-wide_copy_number_screening_retrospective_analysis_of_clinicopathological_features_and_long-term_clinical_outcome_pdf/22084469Test