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1Academic Journal
المؤلفون: Aljouhra AlHargan, Mohammed A. AlMuhaizea, Rawan Almass, Ali H. Alwadei, Maha Daghestani, Stefan T. Arold, Namik Kaya
المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-5 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2054-345X
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المؤلفون: Dilek Colak, Mazhor Al-Dosary, Hesham Aldhalaan, Namik Kaya, Maha Al-Rasheed, Maysoon Alsagob, Hadeel Jaber, Musaad Abukhalid, Hadeel Alkofide, Mohammed A. AlMuhaizea, Rawan Almass, Laila AlQuait, Albandary Al-Bakheet, Felwa Binhumaid, Hanouf Aldeeb
المصدر: Annals of Human Genetics. 86:34-44
مصطلحات موضوعية: Genetics, education.field_of_study, Movement disorders, business.industry, Genetic counseling, Population, Saudi Arabia, Ataxia Telangiectasia Mutated Proteins, Disease, medicine.disease, Compound heterozygosity, Ataxia Telangiectasia, Consanguinity, Phenotype, Mutation, Ataxia-telangiectasia, medicine, Humans, Oculomotor apraxia, medicine.symptom, Allele, education, business, Genetics (clinical)
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المؤلفون: Amber Begtrup, Aljouhra AlHargan, Stefan T. Arold, Anoud Abdulmalik Albader, Peter I. Karachunski, Rawan Almass, Laila AlQuait, Tahsin Stefan Barakat, Ibrahim H. Kaya, Aida M. Bertoli-Avella, Eva Medico Salsench, Dilek Colak, Namik Kaya, Monica Segura Castell, Jude Howaidi, Aziza Chedrawi, Jacie Ihinger, Peter Bauer, Jumanah Al-Sufayan, Mohammed A. AlMuhaizea
المساهمون: Clinical Genetics
المصدر: Acta Neuropathologica, 139(4), 791-794. Springer-Verlag
مصطلحات موضوعية: Male, 0301 basic medicine, Vesicular Transport Proteins, Library science, Genetics department, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Human disease, Political science, Humans, Progressive encephalopathy, Child, Erasmus+, Disability research, Brain Diseases, Epilepsy, Movement Disorders, Pedigree, 030104 developmental biology, Research centre, Child, Preschool, Mutation, Microcephaly, Female, Neurology (clinical), 030217 neurology & neurosurgery, Sequencing Core
وصف الملف: application/pdf
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المؤلفون: Nuzhat Rana, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Amber Begtrup, Jozef Hertecant, Evita Medici-van den Herik, Mohammad Doosti, Gouri Rao Passi, Mohammadreza Dehghani, Tjakko J. van Ham, Mariya Kozenko, Laila AlQuait, Mohammad Yahya Vahidi Mehrjardi, Dilek Colak, Herma C. van der Linde, Henry Houlden, Eleonora Aronica, Huma Arshad Cheema, Jennefer N. Kohler, Namik Kaya, Krishna Kumar Kandaswamy, Salem Alwadaee, Maysoon Alsagob, Woutje M. Berdowski, Zaynab Khazaei, Renjith Mani, Faisal Al Azri, Amna Al Futaisi, Stephanie Efthymiou, Majid Mojarrad, Aida M. Bertoli-Avella, Murat Gunel, Tahsin Stefan Barakat, Wilfred F. J. van IJcken, Kristin G. Monaghan, Rebecca I. Torene, Atieh Eslahi, Fathiya Al Murshedi, Khalid Awartani, Peter Bauer, Muddathir H. Hamad, Kyle Retterer, Reza Maroofian, Rawan Almass, Erik-Jan Kamsteeg, Serdar Coskun, Jonathan A. Bernstein, Elena Perenthaler, Anita Nikoncuk, Mohammed A. AlMuhaizea, Jana Vandrovcova, Anas M. Dababo, Soheil Yousefi, Fateme Massinaei Darmiyan, Mustafa A. Salih, Lauren Brick, A. Gulhan Ercan-Sencicek, Futwan Al-Mohanna, Ivan Čapo, Faisal Zafar, Khaled O. Alahmadi, Marjon van Slegtenhorst, Walter G. de Valk, Mazhor Al-Dosary, Wafa Qubbaj, Alice S. Brooks, Mehrnaz Ghazvini, Paul van den Berg, Darija Putar
المساهمون: Clinical Genetics, Cell biology, Neurology, Pathology, ANS - Cellular & Molecular Mechanisms, APH - Aging & Later Life, APH - Mental Health
المصدر: Acta Neuropathologica, 139(3), 415-442. Springer-Verlag
Acta Neuropathologica, 139, 3, pp. 415-442
Acta Neuropathologica
Acta neuropathologica, 139(3), 415-442. Springer Verlag
Acta Neuropathologica, 139, 415-442مصطلحات موضوعية: Gene isoform, Protein isoform, Male, Microcephaly, Recurrent mutation, UTP-Glucose-1-Phosphate Uridylyltransferase, UGP2, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, epileptic encephalopathy, ATG mutations, start-loss mutation, genetics, whole exome sequencing, microcephaly, recurrent mutation, founder mutation, essential gene, medicine, Genetics, Missense mutation, Animals, Humans, Allele, Founder mutation, Zebrafish, Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Original Paper, Brain Diseases, Genes, Essential, biology, Epileptic encephalopathy, Whole exome sequencing, Infant, biology.organism_classification, medicine.disease, 3. Good health, Pedigree, Start-loss mutation, Essential gene, Child, Preschool, Female, Neurology (clinical), Epileptic Syndromes, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Holger Prokisch, Chung Lee, Eissa Faqeih, Saskia B. Wortmann, Zuhair Rahbeeni, Lee-Jun C. Wong, Mohammed Almannai, Natalia Gomez-Ospina, Mohammed A. AlMuhaizea, Mais Hashem, Julia Wang, Thomas Opladen, Zuhair N. Al-Hassnan, Maja Hempel, Johannes A. Mayr, Richard G. Boles, Majid Alfadhel, Nawal Makhseed, Hongzheng Dai, Bader Alhaddad, Georg F. Hoffmann, Mohammed Al-Owain, Rawan Almass, Ayman W. El-Hattab, Fowzan S. Alkuraya, Mazhor Al-Dosary, Maysoon Alsagob, Namik Kaya, Ali Al Asmari, Samantha A. Schrier Vergano, Mohammed A. Saleh, Wenyaw Chan, Gretchen Kissel Foskett, David A. Stevenson, Wolfgang Sperl, Mohammed A. O. Elamin, Faten B. Almutairi, Shirin Al‐Sharfa
المصدر: Human mutation. 38(12)
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Mitochondrial DNA, Proteome, Ubiquitin-Protein Ligases, Kaplan-Meier Estimate, Mitochondrion, Biology, Human mitochondrial genetics, DNA, Mitochondrial, Oxidative Phosphorylation, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial Encephalomyopathies, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Genetic Association Studies, Cerebral atrophy, FBXL4, F-Box Proteins, Cardiomyopathy, Hypertrophic, medicine.disease, Hypotonia, Mitochondria, 030104 developmental biology, Mutation, Muscle Hypotonia, Acidosis, Lactic, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Aubrey Milunsky, Al Bandary Al-Bakheet, Mohammed Al-Owain, Aziza Chedrawi, Namik Kaya, Mohammed A. AlMuhaizea, Hamad Al-Zaidan, Nadia Al-Hashmi, Raveen K. Basran
المصدر: Clinical Genetics. 79:363-370
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellum, Adolescent, DNA Mutational Analysis, Biology, X-inactivation, Young Adult, Exon, Cerebellar Diseases, X Chromosome Inactivation, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Cerebellar hypoplasia, Genetics (clinical), Family Health, Comparative Genomic Hybridization, GTPase-Activating Proteins, Intron, Facies, Nuclear Proteins, Exons, medicine.disease, Hypoplasia, Pedigree, Developmental disorder, Cytoskeletal Proteins, medicine.anatomical_structure, Child, Preschool, Mental Retardation, X-Linked, Female, Gene Deletion, Comparative genomic hybridization
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المؤلفون: Ibrahim Almogarri, Mohammed Al-Owain, Mohammed A. AlMuhaizea, Hani Humaidan, Amal Alhashem, Iftetah Al-Homoud, Hindi Al-Hindi
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Electrocardiography, Muscular Diseases, X ray computed, Pregnancy, Genetics, medicine, Humans, Vici syndrome, Lung hypoplasia, Abnormalities, Multiple, Myopathy, Lung, Genetics (clinical), medicine.diagnostic_test, business.industry, Electromyography, Muscles, Infant, Newborn, Infant, Magnetic resonance imaging, Syndrome, medicine.disease, Magnetic Resonance Imaging, Hypoplasia, medicine.anatomical_structure, Female, medicine.symptom, business, Tomography, X-Ray Computed
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