المؤلفون: Abhirami Krishnamoorthy Sundaresan, Jaya Gangwar, Aravind Murugavel, Ganesh Babu Malli Mohan, Jayapradha Ramakrishnan

المصدر: AMB Express, Vol 14, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Pangenome, Genotype-Phenotype association, Klebsiella spp., Uropathogen, Hypervirulence, Biotechnology, TP248.13-248.65, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2191-0855

URL الوصول: https://doaj.org/article/8bd83adfcd8a459683a11751b538bfb3

المؤلفون: Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-24 (2024)

مصطلحات موضوعية: Microtia, Syndromic, Non-syndromic, Genotype- phenotype association, TCOF1, SIX2, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/f79a3cf98b764be885ea7b709087fa7a

المؤلفون: Gustavson, Daniel E, Reynolds, Chandra A, Hohman, Timothy J, Jefferson, Angela L, Elman, Jeremy A, Panizzon, Matthew S, Neale, Michael C, Logue, Mark W, Lyons, Michael J, Franz, Carol E, Kremen, William S

المصدر: Journal of the International Neuropsychological Society. 29(2)

مصطلحات موضوعية: Biological Psychology, Health Sciences, Psychology, Genetics, Human Genome, Neurosciences, Prevention, Aging, Brain Disorders, Alzheimer's Disease, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Behavioral and Social Science, Dementia, Aetiology, 2.1 Biological and endogenous factors, Neurological, Humans, Male, Middle Aged, Alzheimer Disease, Apolipoprotein E4, Cognition, Executive Function, Genome-Wide Association Study, Memory, Episodic, Aged, Cognitive decline, Neuropsychology, Executive control, Longitudinal studies, Genotype-phenotype association, Medical and Health Sciences, Psychology and Cognitive Sciences, Experimental Psychology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3pm2x2vn

المؤلفون: Sequeira, Jaison Jeevan, Nizamuddin, Sheikh^{Aff2, Aff3}, van Driem, George, Mustak, Mohammed S.^{Aff1, IDs13258023014092_cor4}

المصدر: Genes & Genomics. 45(11):1409-1422

المؤلفون: Qian, Guoqi^{Aff1, IDs4106002300456y_cor1}, Sun, Pei-Yun

المصدر: International Journal of Data Science and Analytics. :1-14

المؤلفون: Brimble, Elise^{Aff1, IDs1302302302745y_cor1}, Reyes, Kathryn G., Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R. Z., Ortiz-Gonzalez, Xilma R., Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Yuan Tan, Wei Jiang, Le-Yi Hu, Yan-Yu Shen, Hui Chen, Ying-Shi Zou, Li-Xia Luo, Guang-Ming Jin, Zhen-Zhen Liu

المصدر: International Journal of Ophthalmology, Vol 16, Iss 10, Pp 1682-1691 (2023)

مصطلحات موضوعية: gene, pediatric cataract, next generation sequencing, genotype phenotype association, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://ies.ijo.cn/en_publish/2023/10/20231019.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

URL الوصول: https://doaj.org/article/3773f358fb8844b684b2efbe0f67282e

المؤلفون: Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Patient registry, Genotype–phenotype association, Rare neurological diseases, Movement Disorder, Epilepsy, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3b64a88bf2e4498fa667eb61c8835c14

المؤلفون: Sundaresan, Abhirami Krishnamoorthy, Gangwar, Jaya, Murugavel, Aravind, Malli Mohan, Ganesh Babu^{Aff2, Aff3}, Ramakrishnan, Jayapradha^{Aff1, IDs1356802401737w_cor5}

المصدر: AMB Express. 14(1)

المؤلفون: Roder, Thomas^{Aff1, Aff2}, Pimentel, Grégory, Fuchsmann, Pascal, Stern, Mireille Tena, von Ah, Ueli, Vergères, Guy, Peischl, Stephan, Brynildsrud, Ola, Bruggmann, Rémy^{Aff1, IDs13059024032337_cor9}, Bär, Cornelia

المصدر: Genome Biology. 25(1)