المؤلفون: Jamie L Courtland, Tyler WA Bradshaw, Greg Waitt, Erik J Soderblom, Tricia Ho, Anna Rajab, Ricardo Vancini, Il Hwan Kim, Scott H Soderling

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: endosome, lysosome, proteomics, WASH complex, SWIP, motor impairment, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/61590Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/3c8b21a722c34a6295ab609a9270c328Test

المؤلفون: Aastha Vatsyayan, Parul Sharma, Shrey Gupta, Sumiti Sandhu, Seetha Lakshmi Venu, Vandana Sharma, Bouabid Badaoui, Kaidi Azedine, Serti Youssef, Anna Rajab, Alaaeldin Fayez, Seema Madinur, Anop Ranawat, Kavita Pandhare, Srinivasan Ramachandran, Sridhar Sivasubbu, Vinod Scaria

المصدر: PLoS ONE, Vol 16, Iss 1, p e0244567 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/3c9468c283d04cd4bde9c81b2a995be1Test

المؤلفون: Anna Rajab, Nishath Hamza, Salma Al Harasi, Fatma Al Lawati, Una Gibbons, Intesar Al Alawi, Karoline Kobus, Suha Hassan, Ghariba Mahir, Qasim Al Salmi, Barend Mons, Peter Robinson

المصدر: F1000Research, Vol 4 (2015)

مصطلحات موضوعية: Epidemiology, Genomics, Medicine, Science

وصف الملف: electronic resource

العلاقة: http://f1000research.com/articles/4-891/v1Test; https://doaj.org/toc/2046-1402Test

الوصول الحر: https://doaj.org/article/c40459a1ebc04b39bfa98671a5829ca3Test

المؤلفون: Anna Rajab, Volker Straub, Liza J McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke

المصدر: PLoS Genetics, Vol 6, Iss 3, p e1000874 (2010)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2837386?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/6d96313c6cbe40139e8ae831a35a5528Test

المؤلفون: Aastha Vatsyayan, Parul Sharma, Shrey Gupta, Sumiti Sandhu, Seetha Lakshmi Venu, Vandana Sharma, Bouabid Badaoui, Kaidi Azedine, Serti Youssef, Anna Rajab, Alaaeldin Fayez, Seema Madinur, Anop Singh Ranawat, Kavita Pandhare, Srinivasan Ramachandran, Sridhar Sivasubbu, Vinod Scaria

مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genetic and Clinical Aspects of Hemoglobin Disorders, Medicine, Health Sciences, Genomic Studies and Association Analyses, Genome-Wide Association, Compendium, Population, Genetic epidemiology, Genetic diversity, Disease, Biology, Environmental health, Geography, Pathology, Archaeology

العلاقة: https://dx.doi.org/10.60692/4m833-mzj90Test

الإتاحة: https://doi.org/10.60692/ryhfk-9t93510.60692/4m833-mzj90Test

المؤلفون: Ghada M H Abdel-Salam, Sarah E. Marsh, Anna Rajab, Joseph G. Gleeson, Shifteh Sattar, Laila Bastaki, William B. Dobyns, R.B. Dietrich, N.A. Chuang, Elliott H. Sherr, Dominika Swistun, Hülya Kayserili, Lihadh Al-Gazali, Chip Truwit, Asma A. Al-Tawari, Ramy M Hanna, Maha S. Zaki, B. Boglárka

المصدر: Neurology. 99(6)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, business.industry, Consanguinity, Articles, medicine.disease, Corpus callosum, Nervous System Malformations, Magnetic Resonance Imaging, Hypoplasia, Aicardi syndrome, Aicardi Syndrome, Dysplasia, Agenesis, parasitic diseases, medicine, Etiology, Humans, Neurology (clinical), Abnormality, Agenesis of Corpus Callosum, business, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d8f74b55cd95c0e1a973b7b8520c506Test
https://pubmed.ncbi.nlm.nih.gov/21263138Test

المؤلفون: Ricardo Vancini, Jamie L Courtland, Anna Rajab, Scott H. Soderling, Erik J. Soderblom, Hwan Kim, Tyler Wa Bradshaw, Greg Waitt, Tricia Ho

المصدر: eLife, Vol 10 (2021)
eLife

مصطلحات موضوعية: Male, 0301 basic medicine, Mouse, Proteome, medicine.disease_cause, Proteomics, WASH complex, Mice, Cognition, 0302 clinical medicine, Intellectual disability, Biology (General), Mutation, Movement Disorders, General Neuroscience, Neurodegeneration, Intracellular Signaling Peptides and Proteins, General Medicine, medicine.anatomical_structure, lysosome, Medicine, Female, Research Article, Human, QH301-705.5, Endosome, Movement, Science, Protein subunit, Mice, Transgenic, Endosomes, Biology, General Biochemistry, Genetics and Molecular Biology, motor impairment, 03 medical and health sciences, proteomics, Intellectual Disability, Lysosome, medicine, Animals, Humans, endosome, General Immunology and Microbiology, Cell Biology, medicine.disease, SWIP, 030104 developmental biology, Lysosomes, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b69462842c73902918a81c7af807631Test
https://doi.org/10.7554/elife.61590Test

المؤلفون: Greg Waitt, Tyler Wa Bradshaw, Il Hwan Kim, Ricardo Vancini, Scott H. Soderling, Jamie L Courtland, Tricia Ho, Erik J. Soderblom, Anna Rajab

مصطلحات موضوعية: Movement (music), business.industry, Medicine, Cognition, business, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d82648b5650e4129e51dbc2220092019Test
https://doi.org/10.7554/elife.61590.sa2Test

المؤلفون: Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C. Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hülya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D. O’Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F. Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, Paola Ferrari, Arti Nanda, Anna Rajab, David Markie, Mary Gray, John Nelson, Arthur Grix, Annemarie Sommer, Ravi Savarirayan, Andreas R. Janecke, Elisabeth Steichen, David Sillence, Ingrid Haußer, Birgit Budde, Gudrun Nürnberg, Peter Nürnberg, Petra Seemann, Désirée Kunkel, Giovanna Zambruno, Bruno Dallapiccola, Markus Schuelke, Stephen Robertson, Hanan Hamamy, Bernd Wollnik, Lionel Van Maldergem, Stefan Mundlos, Uwe Kornak

المصدر: Nature Genetics. 54:213-213

مصطلحات موضوعية: Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::45d558d4d9d8d5d4ea0a1495ebfa8768Test
https://doi.org/10.1038/s41588-022-01013-2Test

المؤلفون: Richard S. Smith, Kiely N. James, Ganeshwaran H. Mochida, Matthew P. Harris, R. Sean Hill, Xiaochang Zhang, Christopher A. Walsh, Lihadh Al-Gazali, Lydie Burglen, Nicole E. Hatem, Tipu Sultan, Michael E. Coulter, Ellen M DeGennaro, Anna Rajab, Muna Al-Saffar, A. Stacy Kamumbu, Katrin Henke, Jacqueline Aziza, A. James Barkovich, Jennifer N. Partlow, Damir Musaev, Nicolas Chassaing, Joseph G. Gleeson, Maha S. Zaki

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 6
Genetics in Medicine

مصطلحات موضوعية: Microcephaly, EXOC7, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, Clinical Sciences, Exocyst, Biology, EXOC8, Neurodegenerative, Article, Mice, Rare Diseases, Clinical Research, Underpinning research, Ciliogenesis, medicine, Genetics, Animals, Humans, 2.1 Biological and endogenous factors, microcephaly, Aetiology, Intellectual and Developmental Disabilities, Zebrafish, Genetics (clinical), Cell Proliferation, Pediatric, Genetics & Heredity, Brain Diseases, Homozygote, Neurosciences, Disease gene identification, medicine.disease, biology.organism_classification, Cell biology, Brain Disorders, developmental delay, medicine.anatomical_structure, exocyst, Mental Health, Cerebral cortex, Neurological, Congenital Structural Anomalies, Cytokinesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3edcbc7904848c94002ea52e230736c2Test
https://escholarship.org/uc/item/5tn3w50fTest