المؤلفون: Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade

المصدر: eLife, Vol 7 (2018)

مصطلحات موضوعية: neurological disease, Mendelian disorder, oligomerization, intellectual disability, seizures, CAMK2, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/32451Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/db6a2998912a4cdc9e37796ad1f08f29Test

المؤلفون: Tugce B. Balci, Paul R. Mark, Sedlácek Z, Krista Sondergaard Schatz, Tadashi Kaname, Christiane Zweier, Hidenori Ohnishi, Ingrid M. Wentzensen, Solveig Heide, Weimin Bi, A. Baxova, Antje Wiesener, Nancy J. Cox, Devon Haynes, David Rodriguez-Buritica, Sarka Bendova, Nobuhiko Okamoto, Tomoko Uehara, Oana Caluseriu, Koichi Kawakami, Victoria Mok Siu, Alfredo Brusco, Boris Keren, Jennifer M. Lemons, David J. Amor, Patrick Rump, Marie T. McDonald, George E. Hoganson, Miroslava Hancarova, Gina M. Morley, Maria A. Magriña, Sarah Montgomery, Lei Wang, Seema R. Lalani, Kazuo Kubota, Mohammed Al-raqad, Patricia G Wheeler, Haley Streff, Fuad Chowdhury, Elisa Biamino, Meral Gunay-Aygun, Tawfiq Froukh, Kenjiro Kosaki, Jagdeep S. Walia

المصدر: Paediatrics Publications
Genetics in Medicine, 23(7), 1234-1245. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Haploinsufficiency/genetics, Pathology, medicine.medical_specialty, Mutation, Missense, Haploinsufficiency, 030105 genetics & heredity, Microphthalmia, Frameshift mutation, Intellectual Disability, PRR12, neurodevelopmental disorder, Mice, 03 medical and health sciences, Neurodevelopmental disorder, medicine, Animals, Humans, Missense mutation, Genetics (clinical), Anophthalmia, business.industry, medicine.disease, Intellectual Disability/genetics, Hypotonia, Phenotype, 030104 developmental biology, Mutation, Muscle Hypotonia, Missense, medicine.symptom, business, Kidney disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc7d41479fd086aa1b57e144767789fTest
https://doi.org/10.1038/s41436-021-01129-6Test

المؤلفون: Aida M. Bertoli-Avella, Samah Al-Tawalbeh, Nadia Al-Hashmi, Melis Köse, Roberta Trunzo, Fahad Al Abbas, Hasan Tawamie, Vasiliki Karageorgou, Peter Bauer, Ana Westenberger, Ghaleb Elyamany, Omar Abu Adas Blanco, Fuad Al Mutairi, Bruno Reversade, Kornelia Tripolszki, Salem Alawbathani, Mariam Al-Hilali, Fadiah Al-Khattabi, Suliman Khan, André Mégarbané, Natalia Ordonez-Herrera, Mohammed Al-raqad, Danielle Sng, Amal Alhashem, Ruslan Al-Ali, Nashat Al Sukaiti, Homoud Al Hebby

المساهمون: ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development

المصدر: Clinical genetics, 101(2), 247-254. Wiley-Blackwell

مصطلحات موضوعية: Proband, ZNFX1, Primary Immunodeficiency Diseases, DNA Mutational Analysis, Hepatosplenomegaly, Frameshift mutation, Monocytosis, Antigens, Neoplasm, Databases, Genetic, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Alleles, Genetic Association Studies, Genetics (clinical), Immunodeficiency, Genetic testing, Hemophagocytic lymphohistiocytosis, medicine.diagnostic_test, business.industry, Homozygote, Chromosome Mapping, Computational Biology, Facies, medicine.disease, Hematologic Diseases, Pedigree, Phenotype, monocytosis, hemophagocytic lymphohistiocytosis, Mutation, Immunology, hepatosplenomegaly, medicine.symptom, business, immunodeficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a003e0795604c54d0e6cbc4601ab971eTest
https://hdl.handle.net/11454/77517Test

المؤلفون: Bruno Reversade, Hane Lee, Ascia Eskin, Mohammad Shboul, Mahmoud A. Pouladi, Samah Al-Tawalbeh, Franklin L. Zhong, Mohammad El-khateeb, Shinsuke Niwa, Carine Bonnard, Poh Hui Chia, Stanley F. Nelson, William H Xie, Kagistia Hana Utami, Mohammed Al-Raqad, Ruizhu Zeng

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Intellectual disability, Mutation (genetic algorithm), medicine, CAMK2A, Growth delay, medicine.disease, business, Loss function

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c1a5265d6b9e6bcea9d27347327e4634Test
https://doi.org/10.7554/elife.32451.018Test

المؤلفون: Luca Pinello, Bruno Reversade, Takahiro Maeda, Yuichiro Semba, Michitaka Nakano, Takeshi Masuda, Matthew C. Canver, Qiuming Yao, Mohammad Shboul, Stuart H. Orkin, Manami Maeda, Silvia Buonamici, Vivien A. C. Schoonenberg, Michael Seiler, Yuichi Ishikawa, Mitchel A. Cole, Takuji Yamauchi, Daniel E. Bauer, Claudio Macias-Trevino, Fumio Arai, Mohammed Al-Raqad, Koichi Akashi

المساهمون: Center for Reproductive Medicine, ACS - Diabetes & metabolism, ARD - Amsterdam Reproduction and Development, ACS - Heart failure & arrhythmias

المصدر: Cancer cell, 33(3), 386-400.e5. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, DCPS, Myeloid leukemia, Cell Biology, Biology, medicine.disease, Phenotype, Germline, 03 medical and health sciences, Leukemia, 030104 developmental biology, Oncology, hemic and lymphatic diseases, medicine, Cancer research, CRISPR, Precursor mRNA, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b707fc5be679825762265701ffb9f0Test
https://pure.amc.nl/en/publications/genomewide-crisprcas9-screen-identifies-leukemiaspecific-dependence-on-a-premrna-metabolic-pathway-regulated-by-dcpsTest(633460b1-83da-4b6e-8588-1fb565c1e3c3).html

المؤلفون: Fabian Bumbak, Tobias B. Haack, Michael A. Cousin, Michelle D. Amaral, Ingo Borggraefe, Mari Rossi, Mohammed Al-Raqad, Stewart Boyd, Grazia M.S. Mancini, Zornitza Stark, Manju A. Kurian, Daniel Scott, Simon Sadedin, Tiong Yang Tan, Tess J. Jiang, Heike Weigand, Marcella Zollino, Orly Elpeleg, F Lucy Raymond, Yunyun Jiang, Whitley V. Kelley, Sara Ellingwood, David J. Owen, Martina Wilke, Holly Melland, Dawn Peck, Bradley J. Turner, Kate Baker, Giuseppe Marangi, Richard A. Gibbs, Sarah L. Gordon

المساهمون: Baker, Kate [0000-0003-2986-0584], Owen, David [0000-0002-8351-6322], Raymond, Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository, Clinical Genetics

المصدر: Brain
Brain, 141, 2576-2591. Oxford University Press
Barker, K, Gordon, S, Melland, H, Bumbak, F, Scott, D J, Jiang, T, Owen, D, Turner, B, Boyd, S, Rossi, M, Al-Raqad, M, Elpeleg, O, Peck, D, Mancini, G, Wilke, M, Zollino, M, Marangi, G, Weigand, H, Borggraefe, I, Haack, T, Stark, Z, Sadedin, S, Tan, T, Jiang, Y, Gibbs, R, Ellingwood, S, Amaral, M, Kelley, W, Kurian, M & Cousin, M & Raymond, L 2018, ' SYT1-associated neurodevelopmental disorder : a case series ', Brain, vol. 141, no. 9, pp. 2576–2591 . https://doi.org/10.1093/brain/awy209Test

مصطلحات موضوعية: 0301 basic medicine, Male, Action Potentials, Settore MED/03 - GENETICA MEDICA, Synaptic Transmission, Neurotransmitter secretion, Mice, 0302 clinical medicine, Neurodevelopmental disorder, Child, Synaptic vesicle endocytosis, Neurons, Movement Disorders, biology, intellectual disability, movement disorder, synaptic vesicle, synaptotagmin 1, SYT1, Neurology (clinical), Endocytosis, 3. Good health, Child, Preschool, Synaptotagmin I, Female, Synaptic Vesicles, Adolescent, Mutation, Missense, Neurotransmission, Synaptic vesicle, 03 medical and health sciences, Young Adult, medicine, Animals, Humans, Original Articles, medicine.disease, Electrophysiological Phenomena, Rats, Mice, Inbred C57BL, 030104 developmental biology, nervous system, Neurodevelopmental Disorders, Synaptophysin, biology.protein, Calcium, Free nerve ending, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8771b96148c4618e3849e8454c0f0428Test
http://hdl.handle.net/10807/134207Test

المؤلفون: Ghassan S. A. Salama, Mohammed Al-Raqad, Nael Kurdi

المصدر: Middle East Journal of Internal Medicine. 6:37-40

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Family medicine, medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::11cf66a23bc71eb6d25ebc7fcb7623e4Test
https://doi.org/10.5742/mejim.2013.64352Test

المؤلفون: Hane Lee, Carine Bonnard, Ascia Eskin, Stanley F. Nelson, Mohammed Al-Raqad, Valerio Taverniti, Samah Al-Tawalbeh, Mohammad Shboul, Calista Keow Leng Ng, Bruno Reversade, Bertrand Séraphin

المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Center for Reproductive Medicine

المصدر: Human molecular genetics
Human molecular genetics online, 2015, 24 (11), pp.3163-3171. ⟨10.1093/hmg/ddv067⟩
Human Molecular Genetics
Human molecular genetics, 24(11), 3163-3171. Oxford University Press

مصطلحات موضوعية: Male, DCPS, DNA Mutational Analysis, Biology, medicine.disease_cause, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Intellectual Disability, Gene expression, Endoribonucleases, Genetics, medicine, Humans, Abnormalities, Multiple, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Allele, Child, Molecular Biology, Genetics (clinical), Cells, Cultured, Genetic Association Studies, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Mutation, Messenger RNA, Catabolism, RNA, General Medicine, Syndrome, Articles, Pedigree, Enzyme, chemistry, Child, Preschool, Muscle Hypotonia, RNA Splice Sites, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a5d5953d18d7724b2559c1d913d987Test
https://hal.archives-ouvertes.fr/hal-02179565Test