المؤلفون: Raneem H. Alghamdi, Daad Alsowat, Suad Alyamani, Haya Alfaris, Amal Mokeem

المصدر: Epilepsy & Behavior Reports, Vol 25, Iss , Pp 100648- (2024)

مصطلحات موضوعية: Status epilepticus, Autoimmune encephalitis, Overlap syndrome, Glutamic acid decarboxylase-65, Sry-like high-mobility group box1, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589986424000054; https://doaj.org/toc/2589-9864

URL الوصول: https://doaj.org/article/dec11ade9b8a4c03a74a1bb0c3ccd806

المؤلفون: Julianne K. Postma, Jessica L. Zambonin, Ebtissal Khouj, Suad Alyamani, John M. Graham, Fowzan S. Alkuraya, Stephen Kundell, Melissa T. Carter

المصدر: American Journal of Medical Genetics Part A. 188:3350-3357

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b4b7248eb6c97b6647132e909d792299
https://doi.org/10.1002/ajmg.a.62936

المؤلفون: Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor

المساهمون: Newcastle University [Newcastle], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University College of London [London] (UCL), Albert Einstein College of Medicine [New York], Universität Zürich [Zürich] = University of Zurich (UZH), University of Tübingen, University of Miami Leonard M. Miller School of Medicine (UMMSM), King‘s College London, Guy's and St Thomas' Hospital [London], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩

مصطلحات موضوعية: Male, metabolism [Muscle, Skeletal], Developmental Disabilities, [SDV]Life Sciences [q-bio], medicine.disease_cause, Autophagy-Related Protein 7, physiology [Autophagy-Related Protein 7], pathology [Muscle, Skeletal], 0302 clinical medicine, genetics [Nervous System Malformations], Cerebellum, Missense mutation, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, 0303 health sciences, Mutation, Atg7 protein, human, General Medicine, genetics [Ataxia], Phenotype, 3. Good health, Cell biology, genetics [Developmental Disabilities], Pedigree, Female, Intracellular, Adult, Adolescent, genetics [Autophagy], physiology [Autophagy], Mutation, Missense, Genes, Recessive, Nervous System Malformations, genetics [Abnormalities, Multiple], 03 medical and health sciences, genetics [Autophagy-Related Protein 7], medicine, Autophagy, Humans, Abnormalities, Multiple, Computer Simulation, ddc:610, Muscle, Skeletal, Gene, 030304 developmental biology, abnormalities [Face], business.industry, Infant, Fibroblasts, Embryonic stem cell, abnormalities [Cerebellum], Face, Ataxia, Perinatal lethal, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7

المؤلفون: Hesham Aldhalaan, Hana Akleh, Saeed Bohlega, Imaduddin Kanaan, Fathiya Al-Murshedi, Sarar Mohamed, Mohammed AlQuaiz, Mohammad Shagrani, Fahad A. Bashiri, Fowzan S. Alkuraya, Banan Al-Younes, Saif Alshahrani, Maha Alotaibi, Saeed Hassan, Amal Alqassmi, Farrukh Sheikh, Fahad I. Alsohaibani, Edward Cupler, Saad AlShahwan, Majid Alfadhel, Dalal K. Bubshait, Aziza Chedrawi, Hamad Al-Mojalli, Adila Al-Kindy, Amal Alhashem, Mohammad A. Al-Muhaizea, Shamshad Gulab, Khalid Alsaleem, Maisoon Almugbel, Dorota Monies, Faisal Abaalkhail, Ahmed S Alenizi, Suad Alyamani, Abeer Al-Saegh, Ayaz Shah, Dyala Jaroudi, Khalid S. Alqadi, Maha Alnemer, Tariq Faquih, Renad Albar, Khalid Al-Thihli, Heba Y. El Khashab, Sulaiman M. Al-Mayouf, Moayad El-Haj, Brian F. Meyer, Hasan Al-Dhekri, Ibraheem F. Abosoudah, Zuhair Rahbeeni, A. Al-Ghonaium, Alya Qari, Asma Akilan, Mohammed Al-Owain, Nabil Moghrabi, Hamoud Al-Mousa, Amira Oshi, Taghreed Shuaib, Maha Faden, M. Al-Sebayel, Maha Tulbah, Ali Al-Mehaidib, Shazia Subhani, Raashda A Sulaiman, Wesam Kurdi, Hisham Alkuraya, Abdulaziz Al-Saman, Abdullah Alshanbary, Saeed Al Tala, Mustafa A. Salih, Wajeeh Aldekhail, Mohamed El-Kalioby, Zeeshan Shah, Mohammed Zain Seidahmed, Zuhair N. Al-Hassnan, Yasser Sabr, Tahani Alqasim, Moeenaldeen Al-Sayed, Abdullah Alsonbul, Hussien Elsiesy, Rand Arnaout, Saad Alsaadoun, Muddathir H. Hamad, Brahim Tabarki, Sami Al-Hajjar, Randa Bassiouni, Maged H. Hussein, Dieter C. Broering, Soher Balkhy, Abdullah Tamim, Mohamed Abouelhoda, Talal Algoufi, Nawal Makhseed, Ewa Goljan, Turki M. Alkharfy, Talal A. Basha, Bandar K. Al Saud, Eissa Faqeih, Hamad Al-Zaidan, Laszlo Szonyi, Husam R. Kayyali, Habiba Sultana, Suzan Alhomadi, Hadeel Elbardisy, Omar Dabbagh, Wafa Eyaid, Fuad Al Mutairi, Sameena Khan, Mohamed Ibrahim Khalil

المصدر: Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Sequence analysis, Saudi Arabia, Consanguinity, Biology, 03 medical and health sciences, symbols.namesake, Genetics, medicine, Humans, Exome, Genetic Testing, Genetics (clinical), Exome sequencing, Genetic testing, Original Investigation, medicine.diagnostic_test, Genome, Human, Homozygote, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Molecular Sequence Annotation, Sequence Analysis, DNA, Human genetics, 030104 developmental biology, Phenotype, Mutation, Mendelian inheritance, symbols, Population study, Female, Morbidity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d7400f1ed91704112fd5669cc5c9c8
https://pubmed.ncbi.nlm.nih.gov/28600779

المؤلفون: Frank Leblanc, Ibrahim Althubaiti, Salah Baz, John P. Girvin, Andrew G. Parrent, Donald Maclean, Tareq Abalkhail, Faisal Al-Otaibi, Suad Alyamani, David B. MacDonald, Abdulaziz Alsemari, Miguel E. Fiol, Hisham Aldhalaan, Aziza Chedrawi

المصدر: Epilepsy Research and Treatment

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, Article Subject, business.industry, Magnetic resonance imaging, Retrospective cohort study, medicine.disease, Temporal lobe, Surgery, Epilepsy, Frontal lobe, Neuroimaging, medicine, Clinical Study, Epilepsy surgery, Histopathology, Neurology (clinical), business

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d17fe4885d605b6ada971713cd81ca

المؤلفون: Hesham Aldhalaan, Michael Nester, Nadia Al-Hashmi, Albandary Al-Bakheet, Fahad Al-Mohaileb, Banan Al-Younes, Mohammed Al-Owain, Abdulaziz Al-Sugair, Heinz Jungbluth, Brian F. Meyer, Dilek Colak, Namik Kaya, Suad Alyamani, Moeen Al-Sayed, Taghreed Shuaib

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (7)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Cerebellar Ataxia, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Cellular and Molecular Neuroscience, Young Adult, Genetic linkage, Cortex (anatomy), medicine, Biomarkers, Tumor, Humans, Gene Regulatory Networks, Genetic Predisposition to Disease, Amino Acid Sequence, Child, Genetics (clinical), Genetics, Mutation, medicine.diagnostic_test, Cerebellar ataxia, Base Sequence, Dysequilibrium Syndrome, Infant, Newborn, Brain, Infant, Phenotype, Magnetic Resonance Imaging, Psychiatry and Mental health, medicine.anatomical_structure, Positron emission tomography, Child, Preschool, Positron-Emission Tomography, Female, medicine.symptom, Differential diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd7af36bda1ba4a504c11cdd10927754
https://pubmed.ncbi.nlm.nih.gov/21812104

المؤلفون: Fowzan S. Alkuraya, Ikuo Masuho, Hanan E. Shamseldin, Ahmed S Alenizi, Suad Alyamani, Niema Ibrahim, Dipak N. Patil, Kirill A. Martemyanov

المصدر: Genome Biology

مصطلحات موضوعية: 0301 basic medicine, Genetics, Linkage, Research, Attention deficit hyperactivity disorder (ADHD), Disease, Mendelian, Biology, medicine.disease, Hippocampus, Human genetics, Striatum, 03 medical and health sciences, 030104 developmental biology, Regulator of G protein signaling, Dopamine, Heterotrimeric G protein, medicine, Missense mutation, Attention deficit hyperactivity disorder, G protein coupled receptors (GPCR), Exome sequencing, Neuropsychiatric disorders, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8aef41095914875c87dff1d1cda074