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1دورية أكاديمية
المؤلفون: Abdul Rafiq Khan, Ali Al-Othaim, Ahmed Al-Fares, Najla Al Hussain
المصدر: Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 26-30 (2018)
مصطلحات موضوعية: msud hplc analysis, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100817- (2021)
مصطلحات موضوعية: Dihydrolipoamide dehydrogenase deficiency, Lactic acidosis, Hypoglycemia, Pyruvate dehydrogenase complex, Flavoprotein and E3, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3
المؤلفون: Majid Alfadhel, Anar Alfarsi, Ahmed Al Fares, Faroug Ababneh, Brahim Tabarki, Fuad Al Mutairi, Seham Alameer, Amal Alhashem
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100817-(2021)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: KAIMRC, King Abdullah International Medical Research Centre, IRB, Institutional Review Board, medicine.medical_specialty, Medicine (General), Ataxia, MRI, Magnetic resonance imaging, QH301-705.5, Population, education, Disease, Hypoglycemia, Gastroenterology, Endocrinology, R5-920, Pyruvate dehydrogenase complex, Internal medicine, Genetics, Medicine, Dihydrolipoamide dehydrogenase deficiency, BCKDH, Branched-chain a-keto acid dehydrogenase, Biology (General), BCAAs, Branched Chain Amino Acids, Molecular Biology, education.field_of_study, Dihydrolipoamide dehydrogenase, Flavoprotein and E3, business.industry, Lactic acidosis, Metabolic disorder, DCA, Dichloroacetate, medicine.disease, Hypotonia, Cohort, PDH, Pyruvate dehydrogenase, medicine.symptom, αKGDH, alpha-ketoglutarate dehydrogenase, business, DLDD, Dihydrolipoamide Dehydrogenase Deficiency, WES, Whole Exome Sequencing, Research Paper
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4
المؤلفون: Flavia Palombo, Maarten Fornerod, Grazia M.S. Mancini, Joseph G. Gleeson, Lily Bazak, Esmee Kasteleijn, Natalia Ordonez-Herrera, Milena Laure-Kamionowska, Fowzan S. Alkuraya, Pawel Gawlinski, William B. Dobyns, Mariasavina Severino, Marjolein H G Dremmen, Marco Seri, Marie Claire Y. de Wit, Robert B. Hufnagel, Ghayda Mirzaa, Laura Vandervore, Rachel Schot, Maarten H. Lequin, Lina Basel-Salmon, Arndt Rolfs, Robert J. Hopkin, Ahmed Al Fares, Nicola Brunetti-Pierri, Bella Davidov, Gerarda Cappuccio, Maria Teresa Divizia, Rolf W. Stottmann, Daphne J. Smits, Aida M. Bertoli-Avella, Wojciech Wiszniewski, Damir Musaev, Valentina Stanley, Hanah Akleh, Peter Bauer, Amal Alhashem, Martina Wilke, Jeroen Demmers, Malak Al Ghamdi, Marjon van Slegtenhorst, Pasquale Striano, Mees van der Ent, Pamela Magini, Tommaso Pippucci, Marta Columbaro, Maha S. Zaki, Anna Jansen, Deema Aljeaid, Peter J. van der Spek, Noa Ruhrman Shahar, Frans W. Verheijen
المساهمون: Clinical Biology, Clinical sciences, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, Francesco, Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P., Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M., Mancini, G. M. S., Clinical Genetics, Clinical Chemistry, Cell biology, Radiology & Nuclear Medicine, Neurology, Biochemistry, Pathology, Magini P., Smits D.J., Vandervore L., Schot R., Columbaro M., Kasteleijn E., van der Ent M., Palombo F., Lequin M.H., Dremmen M., de Wit M.C.Y., Severino M., Divizia M.T., Striano P., Ordonez-Herrera N., Alhashem A., Al Fares A., Al Ghamdi M., Rolfs A., Bauer P., Demmers J., Verheijen F.W., Wilke M., van Slegtenhorst M., van der Spek P.J., Seri M., Jansen A.C., Stottmann R.W., Hufnagel R.B., Hopkin R.J., Aljeaid D., Wiszniewski W., Gawlinski P., Laure-Kamionowska M., Alkuraya F.S., Akleh H., Stanley V., Musaev D., Gleeson J.G., Zaki M.S., Brunetti-Pierri N., Cappuccio G., Davidov B., Basel-Salmon L., Bazak L., Shahar N.R., Bertoli-Avella A., Mirzaa G.M., Dobyns W.B., Pippucci T., Fornerod M., Mancini G.M.S.
المصدر: American Journal of Human Genetics, 105(4), 689-705. Cell Press
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Ceramide, RNA Splicing, Mitosis, Cell fate determination, Biology, Endoplasmic Reticulum, Article, arthrogryposis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Humans, Cell Lineage, microcephaly, Nuclear pore, Child, SMPD4, Genetics (clinical), Arthrogryposis, arthrogryposi, neutral-sphingomyelinase, Gene Expression Profiling, Autophagy, medicine.disease, Sphingolipid, Pedigree, NET13, Cell biology, HEK293 Cells, Sphingomyelin Phosphodiesterase, 030104 developmental biology, chemistry, Neurodevelopmental Disorders, Female, medicine.symptom, Sphingomyelin, 030217 neurology & neurosurgery
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2925851eb5a1d6d25eae66765e184d
https://pure.eur.nl/en/publications/33486e7c-9ab9-4b4f-97ca-3cd94a79b93f
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