المؤلفون: Bosi Dong, Yajiao Li, Fandi Ai, Jia Geng, Ting Tang, Wan Peng, Yusha Tang, Hui Wang, Zixuan Tian, Fengxiao Bu, Lei Chen

المصدر: Frontiers in Genetics, Vol 15 (2025)

مصطلحات موضوعية: patent foramen ovale, genome-wide association study, heart development, common variants, single-cell sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1523304/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c4df83b20ba2450ca9e50e07a857bcec

المؤلفون: Pei-Shan Wang, Xin-Xia Yang, Qiao Wei, Yong-Ting Lv, Zhi-Ying Wu, Hong-Fu Li

المصدر: Annals of Medicine, Vol 56, Iss 1 (2024)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, SOD1, Chinese, common variants, founder effect, SOD1 aggregation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0785-3890; https://doaj.org/toc/1365-2060

URL الوصول: https://doaj.org/article/2b661cf7683e4ea5af035b09b45155d3

المؤلفون: M. Reza Jabalameli, Jhih-Rong Lin, Quanwei Zhang, Zhen Wang, Joydeep Mitra, Nha Nguyen, Tina Gao, Mark Khusidman, Sanish Sathyan, Gil Atzmon, Sofiya Milman, Jan Vijg, Nir Barzilai, Zhengdong D. Zhang

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Pleiotropy, Polygenic score, Common variants, Aging, Lifespan, Longevity, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e7089311efc14bf3834f43d096b8f9b4

المؤلفون: Beatrice Spedicati, Alessandro Pecori, Maria Pina Concas, Aurora Santin, Romina Ruberto, Giuseppe Giovanni Nardone, Andrea D’Alessandro, Giancarlo Tirelli, Paolo Boscolo-Rizzo, Giorgia Girotto

المصدر: Life, Vol 15, Iss 1, p 56 (2025)

مصطلحات موضوعية: COVID-19, post-viral olfactory dysfunction, Whole Genome Sequencing, rare variants, common variants, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/15/1/56; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/9bd7ed9cbf7649f6bcd5948f0e28b076

المؤلفون: Noor E. Taams, Maria J. Knol, Rens Hanewinckel, Judith Drenthen, Mary M. Reilly, Pieter A. van Doorn, Hieab H. H. Adams, M. Arfan Ikram

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: GWAS, genetics, common variants, chronic axonal polyneuropathy, neuropathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1422824/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/040b80eabbe8418382c0003d9afde3d1

المؤلفون: Adel Abuzenadah, Nofe Alganmi, Raghad AlQurashi, Esraa Hawsa, Abdullah AlOtibi, Abdulrahman Hummadi, Ahmed Ali Nahari, Somaya AlZelaye, Nasser R. Aljuhani, Manal Al-Attas, Heba Abusamra, Shereen Turkistany, Sajjad Karim, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudhary, Mariam M. Al Eissa

المصدر: Journal of Epidemiology and Global Health, Vol 14, Iss 1, Pp 162-168 (2024)

مصطلحات موضوعية: Lipodystrophy, Common variants, Rare diseases, Saudi Arabia, Prevention, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2210-6014

URL الوصول: https://doaj.org/article/77f892a1ac48446da3a7bc8d65a5ff3d

المؤلفون: Srinivasan, Sahana, Kancheva, Daliya, De Ren, Sofie, Saito, Takashi, Jans, Maude, Boone, Fleur, Vandendriessche, Charysse, Paesmans, Ine, Maurin, Herve, Vandenbroucke, Roosmarijn, Hoste, Esther, Voet, Sofie, Scheyltjens, Isabelle, Pavie, Benjamin, Lippens, Saskia, Schwabenland, Marius, Prinz, Marco, Saido, Takaomi, Bottelbergs, Astrid, Movahedi, Kiavash, Lamkanfi, Mohamed, van Loo, Geert

المصدر: FRONTIERS IN IMMUNOLOGY ; ISSN: 1664-3224

مصطلحات موضوعية: Medicine and Health Sciences, Alzheimer's disease, ss-amyloid, microglia, neuroinflammation, inflammasome, NF-KAPPA-B, NLRP3 INFLAMMASOME, APOLIPOPROTEIN-E, COMMON VARIANTS, MOUSE MODELS, BETA, ACTIVATION, PATHOLOGY

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01HRQ9PRE73G83XMSQFJFJ53B7; http://doi.org/10.3389/fimmu.2024.1323409; https://biblio.ugent.be/publication/01HRQ9PRE73G83XMSQFJFJ53B7/file/01HRQ9SPQQ8AF0J6527VZ86HAV

الاتاحة: https://biblio.ugent.be/publication/01HRQ9PRE73G83XMSQFJFJ53B7
http://hdl.handle.net/1854/LU-01HRQ9PRE73G83XMSQFJFJ53B7
https://doi.org/10.3389/fimmu.2024.1323409
https://biblio.ugent.be/publication/01HRQ9PRE73G83XMSQFJFJ53B7/file/01HRQ9SPQQ8AF0J6527VZ86HAV

المؤلفون: Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +disturbance%22">xlink "> disturbance, sup >&# 8722, similar overall characteristics, primary ciliary dyskinesia, genetic risk score, forced expiratory volume, blood eosinophil counts, asthmatic healthy participants, 4 x 10, clinvar database (<, type 2 immunity, preserved lung function, low asthma clusters, adult asthma clusters, common snps associated, common variants, clinvar /<

Relation: https://figshare.com/articles/journal_contribution/Histogram_and_normal_Q-Q_plot_of_the_PCD-GRS_in_healthy_participants_N_2203_mean_12_54_/25372211

الاتاحة: https://doi.org/10.1371/journal.pone.0300000.s006

المؤلفون: Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +disturbance%22">xlink "> disturbance, sup >&# 8722, similar overall characteristics, primary ciliary dyskinesia, genetic risk score, forced expiratory volume, blood eosinophil counts, asthmatic healthy participants, 4 x 10, clinvar database (<, type 2 immunity, preserved lung function, low asthma clusters, adult asthma clusters, common snps associated, common variants, clinvar /<

Relation: https://figshare.com/articles/journal_contribution/Characteristics_of_combined_asthma_clusters_with_high_low_and_average_PCD-GRS_values_in_673_patients_who_had_never_smoked_/25372202

الاتاحة: https://doi.org/10.1371/journal.pone.0300000.s003

المؤلفون: Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +disturbance%22">xlink "> disturbance, sup >&# 8722, similar overall characteristics, primary ciliary dyskinesia, genetic risk score, forced expiratory volume, blood eosinophil counts, asthmatic healthy participants, 4 x 10, clinvar database (<, type 2 immunity, preserved lung function, low asthma clusters, adult asthma clusters, common snps associated, common variants, clinvar /<

Relation: https://figshare.com/articles/journal_contribution/Twenty-nine_PCD-related_genes_/25372208

الاتاحة: https://doi.org/10.1371/journal.pone.0300000.s005

المؤلفون: Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +disturbance%22">xlink "> disturbance, sup >&# 8722, similar overall characteristics, primary ciliary dyskinesia, genetic risk score, forced expiratory volume, blood eosinophil counts, asthmatic healthy participants, 4 x 10, clinvar database (<, type 2 immunity, preserved lung function, low asthma clusters, adult asthma clusters, common snps associated, common variants, clinvar /<

Relation: https://figshare.com/articles/journal_contribution/Characteristics_of_healthy_participants_and_patients_with_asthma_in_this_study_/25372196

الاتاحة: https://doi.org/10.1371/journal.pone.0300000.s001

المؤلفون: Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +disturbance%22">xlink "> disturbance, sup >&# 8722, similar overall characteristics, primary ciliary dyskinesia, genetic risk score, forced expiratory volume, blood eosinophil counts, asthmatic healthy participants, 4 x 10, clinvar database (<, type 2 immunity, preserved lung function, low asthma clusters, adult asthma clusters, common snps associated, common variants, clinvar /<

Relation: https://figshare.com/articles/journal_contribution/Associations_between_the_12_SNPs_and_the_prevalence_of_asthma_adjusted_for_sex_age_and_smoking_index_/25372199

الاتاحة: https://doi.org/10.1371/journal.pone.0300000.s002

المؤلفون: Rie Shigemasa, Hironori Masuko, Hisayuki Oshima, Kentaro Hyodo, Haruna Kitazawa, Jun Kanazawa, Yohei Yatagai, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Satoshi Konno, Tomomitsu Hirota, Mayumi Tamari, Tohru Sakamoto, Nobuyuki Hizawa

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Physiology, Pharmacology, Immunology, Developmental Biology, Science Policy, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, +disturbance%22">xlink "> disturbance, sup >&# 8722, similar overall characteristics, primary ciliary dyskinesia, genetic risk score, forced expiratory volume, blood eosinophil counts, asthmatic healthy participants, 4 x 10, clinvar database (<, type 2 immunity, preserved lung function, low asthma clusters, adult asthma clusters, common snps associated, common variants, clinvar /<

Relation: https://figshare.com/articles/journal_contribution/Clinical_features_related_to_mucociliary_dysfunction_according_to_the_PCD-GRS_/25372205

الاتاحة: https://doi.org/10.1371/journal.pone.0300000.s004

المؤلفون: Ilinca, Andreea, Kafantari, Efthymia, Puschmann, Andreas

المصدر: Parkinsonism and Related Disorders MultiPark: Multidisciplinary research focused on Parkinson´s disease. 94:129-131

مصطلحات موضوعية: Common variants, Dystonia, Early-onset Parkinson disease, Hypomorphic variants, Mendelian disease, Mitochondrial disease, Myoclonus, Rare variants, WARS2 c.833T>G, WARS2 c.938A>T, WARS2 p.(Lys313Met), WARS2 p.(Val278Gly), Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

URL الوصول: https://lup.lub.lu.se/record/82b37f8c-c77b-44fd-8c5a-a3f648169b70
http://dx.doi.org/10.1016/j.parkreldis.2022.01.012

المؤلفون: Yafen Yu, Qi Zhen, Weiwei Chen, Yanqin Yu, Zhuo Li, Yirui Wang, Wencheng Fan, Sihan Luo, Daiyue Wang, Yuanming Bai, Zhuan Bian, Miao He, Liangdan Sun

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)

مصطلحات موضوعية: common variants, genetic risk loci, genome‐wide association study, orofacial clefts, susceptibility, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/35ec4b3d8ba045379712c99479f96fce

المؤلفون: Forsyth, Jennifer K, Asarnow, Robert F

المصدر: Child and Adolescent Psychiatric Clinics of North America. 29(1)

مصطلحات موضوعية: Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Human Genome, Brain Disorders, Biotechnology, Neurosciences, Genetics, Mental Health, Pediatric, Schizophrenia, Serious Mental Illness, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Mental health, Age of Onset, Child, Genome-Wide Association Study, Humans, Neurodevelopmental Disorders, Childhood-onset schizophrenia, Common variants, GWAS, Copy number variants, Rare variants, De novo mutations, Autism spectrum disorder, Clinical Sciences, Developmental & Child Psychology, Clinical sciences, Applied and developmental psychology, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/96c2j7tz

المؤلفون: Zhang, Jianjun, Wu, Baolin, Sha, Qiuying, Zhang, Shuanglin, Wang, Xuexia

المصدر: Genetic Epidemiology. 43(8)

مصطلحات موضوعية: association studies, common variants, optimal weights, rare variants, Computer Simulation, Genetic Variation, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Humans, Models, Genetic, Models, Statistical, Phenotype

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3rq6r6mb

المؤلفون: Bonvicini, Cristian, Scassellati, Catia, Benussi, Luisa, Di Maria, Emilio, Maj, Carlo, Ciani, Miriam, Fostinelli, Silvia, Mega, Anna, Bocchetta, Martina, Lanzi, Gaetana, Giacopuzzi, Edoardo, Ferraboli, Sergio, Pievani, Michela, Fedi, Virginia, Defanti, Carlo Alberto, Giliani, Silvia, Alzheimer’s Disease Neuroimaging Initiative, Frisoni, Giovanni Battista, Ghidoni, Roberta, Gennarelli, Massimo

المصدر: Journal of Alzheimer's disease : JAD. 67(1)

مصطلحات موضوعية: Alzheimer’s Disease Neuroimaging Initiative, Humans, Dementia, Apolipoproteins E, Risk Assessment, Retrospective Studies, Age of Onset, Alleles, Aged, Middle Aged, Female, Male, Presenilin-2, Genetic Variation, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Prion Proteins, C9orf72 Protein, Alzheimer’s disease, Lewy body dementia, common variants, early onset dementia, frontotemporal dementia, next generation sequencing, rare mutations, Alzheimer's disease, frontotemporal dementia, Clinical Sciences, Cognitive Sciences, Neurosciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xf9d1xv

المؤلفون: Ya-Fei Wen, Xue-Wen Xiao, Lu Zhou, Ya-Ling Jiang, Yuan Zhu, Li-Na Guo, Xin Wang, Hui Liu, Ya-Fang Zhou, Jun-Ling Wang, Xin-Xin Liao, Lu Shen, Bin Jiao

المصدر: Neural Regeneration Research, Vol 17, Iss 3, Pp 682-689 (2022)

مصطلحات موضوعية: alzheimer’s disease, chinese population, common variants, gba, parkinson’s disease, rare variants, snca, vps35, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.nrronline.org/article.asp?issn=1673-5374;year=2022;volume=17;issue=3;spage=682;epage=689;aulast=Wen; https://doaj.org/toc/1673-5374

URL الوصول: https://doaj.org/article/f704e08bc8a84c6c94b7723f26831caa

المؤلفون: Jiabin Liu, Juanjuan Huang, Yuwen Zhao, Hongxu Pan, Yige Wang, Zhenhua Liu, Qian Xu, Qiying Sun, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Beisha Tang, Jifeng Guo

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: Parkinson's disease, DNM1L, DRP1, mitochondria, rare variants, common variants, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1133449/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/6ccaba5c801046a194d7e4b419488d2f