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1دورية أكاديمية
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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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
Relation: https://doaj.org/toc/2192-8312
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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: 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
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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: Laila AlQuait, Alaa Edrees, Haya Al‐Joudi, Sameena Khan, Hamoud Al-Mousa, Aziza Chedrawi, Rawan Almass, Mazhor Al-Dosary, Al Bandary Al-Bakheet, Maysoon Alsagob, Ehab Tous, Dilek Colak, Dorota Monies, Lefian Al-Otaibi, Mohammed Al-Owain, Namik Kaya, Abdulaziz Alsemari, Saif Alshahrani, Maha H. Daghestani, Mohamed Tohary
المصدر: Clinical Genetics. 99:724-731
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Neutropenia, Anemia, Encephalopathy, Mutation, Missense, Disease, 030105 genetics & heredity, Bioinformatics, Young Adult, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Child, Genetics (clinical), Brain Diseases, business.industry, Neurodegeneration, Infant, medicine.disease, Magnetic Resonance Imaging, Thrombocytopenia, Phenotype, Pedigree, 030104 developmental biology, Female, business, Microtubule-Associated Proteins
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المؤلفون: Marcello Scala, Saskia B. Wortmann, Namik Kaya, Menno D. Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D. Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka‐Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B. Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G. Karimiani, Yilmaz Yildiz, Ahmet C. Ceylan, Teresa Santiago‐Sim, Amy Dameron, Hui Yang, Mehran B. Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S. Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A. Al‐Muhaizea, Meznah O. Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H. Alwadei, Maha M. AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A. Lines, M. Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P. Ferla, Jenny C. Taylor, Hessa S. Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt‐Mechelke, Andreas Ziegler, Mahmoud Y. Issa, Hasnaa M. Elbendary, Pasquale Striano, Fowzan S. Alkuraya, Maha S. Zaki, Joseph G. Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S. Knaap, Reza Maroofian, Henry Houlden
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Integrative Neurophysiology, Clinical Genetics, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency ', Human Mutation, vol. 43, no. 3, pp. 403-419 . https://doi.org/10.1002/humu.24326
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(3), 403-419. Wiley-Liss Inc.
Human mutation, 43(3), 403-419. Wiley-Liss Inc.
Human Mutation, 43, 403-419
Human Mutation, 43(3), 403-419. Wiley
Hum. Mutat. 43, 403-419 (2022)
Human Mutation, 43, 3, pp. 403-419مصطلحات موضوعية: MUTATIONS, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ASSOCIATION, heart disease, white matter abnormalities, Prognosis, Inosine, Itpa, Itpase, Congenital Microcephaly, Developmental And Epileptic Encephalopathy 35, Heart Disease, White Matter Abnormalities, ITPA, SDG 3 - Good Health and Well-being, Mutation, Genetics, Microcephaly, GROWTH, Humans, Inosine Triphosphate, Epilepsy, Generalized, ITPase, NUCLEOTIDE POOLS, Pyrophosphatases, congenital microcephaly, RETARDATION, developmental and epileptic encephalopathy 35, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Rawan Almass, Mohammad A. Al-Muhaizea, Shoug AlHarbi, Dilek Colak, Anoud Abdulmalik Albader, Namik Kaya, Laila AlQuait, Maha Al-Rasheed, Abdullah Alhumaidan, Afnan Alrasheed, Albandary Al-Bakheet
المصدر: Neuromuscular Disorders. 30:611-615
مصطلحات موضوعية: 0301 basic medicine, medicine.disease_cause, Neuromuscular junction, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Gene, Genetics (clinical), Genetic testing, Mutation, VAMP1, medicine.diagnostic_test, business.industry, Congenital myasthenic syndrome, medicine.disease, Hypotonia, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Immunology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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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: Robert W. Taylor, Alya Qari, Rozeena Huma, Moeenaldeen Al-Sayed, Dilek Colak, Laila AlQuait, Rawan Almass, Maysoon Alsagob, Maha Abdulrahim, Lujane Y. Al-Ahaidib, Basma Alahideb, Eman Alobeid, Tarfa Alshidi, Albandary Al-Bakheet, N. Kaya, Mazhor Al-Dosary, Zainab AlMasseri, Shahad Baselm
المصدر: JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
JIMD Reportsمصطلحات موضوعية: Research Report, Mitochondrial encephalomyopathy, medicine.medical_specialty, Mitochondrial DNA, truncation, Endocrinology, Diabetes and Metabolism, QH426-470, Mitochondrion, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Internal medicine, Genetics, Internal Medicine, medicine, Missense mutation, mitochondrial oxygen consumption, Dystonia, SLC25A42, business.industry, Research Reports, Metabolic acidosis, RC648-665, medicine.disease, deep brain stimulation, ATP production, Endocrinology, Lactic acidosis, Speech delay, medicine.symptom, business