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1دورية أكاديمية
المؤلفون: Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: Galloway-Mowat syndrome, steroid-resistant nephrotic syndrome, GAMOS, proteomic, KEOPS complex, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.806190/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Farid Alzhrani, Hassan Alassiry, Ibrahim A Alorainy, Fahad B Albadr, Yassin Abdulsamad, Ahmad Aldhaferi
المصدر: Journal of Nature and Science of Medicine, Vol 5, Iss 1, Pp 40-43 (2022)
مصطلحات موضوعية: cochlear implant, labyrinthitis ossifican, postcochlear ossification, Medicine, Public aspects of medicine, RA1-1270
العلاقة: http://www.jnsmonline.org/article.asp?issn=2589-627X;year=2022;volume=5;issue=1;spage=40;epage=43;aulast=AlzhraniTest; https://doaj.org/toc/2589-627XTest; https://doaj.org/toc/2589-6288Test; https://doaj.org/article/deacf5fd06c64fc896b6c16cac274bcfTest
الإتاحة: https://doi.org/10.4103/jnsm.jnsm_138_20Test
https://doaj.org/article/deacf5fd06c64fc896b6c16cac274bcfTest -
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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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المصدر: Aljouf University Medical Journal. 7:29-36
مصطلحات موضوعية: Falx cerebri, Nuclear magnetic resonance, Materials science, medicine.diagnostic_test, medicine, Magnetic resonance imaging, General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::60e1d8d1be6190dffc86c4174c1e1b43Test
https://doi.org/10.12816/0056998Test -
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المؤلفون: Malak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, Narjes Saheb Sharif-Askari, Mahmood Y. Hachim, Hamad Alsheikh, Muddathir H. Hamad, Mustafa A. Salih, Fahad A. Bashiri, Khalid Alhasan, Tarek Kashour, Pilar Guatibonza Moreno, Sabine Schröder, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Hisham Alkhalidi, Dima Z. Jamjoom, Ibrahim A. Alorainy, Assim A. Alfadda, Rabih Halwani
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Galloway-Mowat syndrome, steroid-resistant nephrotic syndrome, GAMOS, proteomic, KEOPS complex
الإتاحة: https://doi.org/10.3389/fgene.2022.806190.s001Test
https://figshare.com/articles/dataset/DataSheet1_Genomic_Proteomic_and_Phenotypic_Spectrum_of_Novel_O-Sialoglycoprotein_Endopeptidase_Variant_in_Four_Affected_Individuals_With_Galloway-Mowat_Syndrome_pdf/20128937Test -
6دورية أكاديمية
المصدر: Journal of Family and Community Medicine, Vol 17, Iss 2, Pp 96-102 (2010)
مصطلحات موضوعية: Pitfalls, assessment, student, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: http://www.jfcmonline.com/article.asp?issn=2230-8229;year=2010;volume=17;issue=2;spage=96;epage=102;aulast=Al-FarisTest; https://doaj.org/toc/2230-8229Test; https://doaj.org/toc/2229-340XTest
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المصدر: The American Journal of Case Reports
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Multiple Sclerosis, JC virus, 030204 cardiovascular system & hematology, medicine.disease_cause, Leukoencephalopathy, 03 medical and health sciences, Multiple Sclerosis, Relapsing-Remitting, 0302 clinical medicine, Natalizumab, Immune reconstitution inflammatory syndrome, medicine, Humans, medicine.diagnostic_test, Fingolimod Hydrochloride, business.industry, Multiple sclerosis, Progressive multifocal leukoencephalopathy, Leukoencephalopathy, Progressive Multifocal, Brain, Magnetic resonance imaging, Articles, General Medicine, medicine.disease, JC Virus, Magnetic Resonance Imaging, Fingolimod, 030220 oncology & carcinogenesis, DNA, Viral, Female, business, Immunosuppressive Agents, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01b8711d75bfd356ac86b3f511c64885Test
https://doi.org/10.12659/ajcr.911521Test -
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المؤلفون: Abdulmajeed AlDrees, Jumanah Al-Sufayan, Albandary Al-Bakheet, Salah A. Elmalik, Ibrahim A. Alorainy, Mohammed Zain Seidahmed, Dilek Colak, Namik Kaya, Ibrahim M. Ghozzi, Muddathir H. Hamad, Mustafa A. Salih
المصدر: BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)مصطلحات موضوعية: Gait Ataxia, Male, Ataxia, Adolescent, Autophagy-Related Proteins, Case Report, lcsh:RC346-429, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, Salih ataxia, medicine, Humans, Spinocerebellar Ataxias, Cognitive Dysfunction, Child, Frameshift Mutation, Founder mutation, Exome, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Genetics, 0303 health sciences, Cerebellar ataxia, business.industry, SCAR15, Haplotype, General Medicine, medicine.disease, Magnetic Resonance Imaging, Mutation (genetic algorithm), Spinocerebellar ataxia, RUBCN, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c5e1d242fc34c7e335c4a179becd38Test
https://doi.org/10.1186/s12883-020-01761-wTest -
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المؤلفون: Nicholas W. Wood, Saif Alshahrani, Dilek Colak, Michael C. Kruer, Kshitij Mankad, Zuhair Rahbeeni, Rozeena Huma, Khushnooda Ramzan, Rawan Almass, Stanislav Groppa, Moeenaldeen Al-Sayed, Indran Davagnanam, Fuad Almutairi, Maha S Al-Shammari, Maria Puiu, E Ghayoor Karimiani, N. Kaya, Stephanie Efthymiou, Nourelhoda A Haridy, M Beiraghi Toosi, Alya Qari, Muddathir H. Hamad, Mustafa A. Salih, Maysoon Alsagob, Somayeh Bakhtiari, Jessika Johannsen, Tatjana Bierhals, Reza Maroofian, Katja Kloth, Adela Chirita-Emandi, Henry Houlden, N T Malintan, Faiqa Imtiaz, Ibrahim A. Alorainy, Jana Vandrovcova, Laila AlQuait, Hamad Al-Zaidan, Viorica Chelban
المصدر: European Journal of Neurology
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, leukodystrophy, animal structures, hypomyelination, Neonatal onset, Compound heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Medicine, Humans, Spinocerebellar Ataxias, 030212 general & internal medicine, Child, Exome sequencing, SPAX8, Homeodomain Proteins, Cerebellar ataxia, business.industry, Leukodystrophy, Original Articles, medicine.disease, Disease gene identification, Hypotonia, 3. Good health, Optic Atrophy, Phenotype, Neurology, Muscle Spasticity, Mutation, embryonic structures, NKX6‐2, Original Article, Neurology (clinical), medicine.symptom, business, spastic ataxia 8, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a074b70a1bf1d6a7a437cc5a7084b5caTest
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest -
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المؤلفون: May L. Griebel, Klaus Schmitz-Abe, Anh Thu N. Lam, Abdullah Abu Jamea, Caroline D. Robson, Mauricio R. Delgado, Sarah Servattalab, Mohammad Asif Dogar, Ibrahim A. Alorainy, A. James Barkovich, Maya Peeva, Saumya Shekhar Jamuar, Marie Drottar, Kyriacos Markianos, Khaled K. Abu-Amero, Zayed Al Zayed, Elizabeth C. Engle, P. Ellen Grant, Alissa M. D'Gama, Wai-Man Chan, Christopher A. Walsh, Nancy J. Clegg, Ed S. Lein, Timothy W. Yu, Wendy L. Ward, Thomas M. Bosley
المصدر: Nature genetics
مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, Loss of Heterozygosity, Receptors, Cell Surface, Scoliosis, Biology, Hippocampal formation, Polymorphism, Single Nucleotide, Mirror movements, Article, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Agenesis of the corpus callosum, Neurons, Brain, Gene Expression Regulation, Developmental, Horizontal gaze palsy, Anatomy, Commissure, medicine.disease, Phenotype, 030104 developmental biology, Mutation, Female, Brainstem, Colorectal Neoplasms, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810f6d374273cf3a5e7ec3c2d4ae6babTest
https://doi.org/10.1038/ng.3804Test