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: 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: 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