-
1
المؤلفون: James M. Hotaling, Steven E. Boyden, Frank Tüttelmann, Alexandra M. Lopes, Marius Wöste, Albert Salas-Huetos, Sabine Kliesch, Donald F. Conrad, Margot J. Wyrwoll, Douglas T. Carrell, Kenneth I. Aston, João Gonçalves, Liina Nagirnaja
المصدر: Hum Genet
HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Adult, Male, Heterozygote, Telomere-Binding Proteins, Mutation, Missense, Cell Cycle Proteins, Biology, Compound heterozygosity, Article, Frameshift mutation, 03 medical and health sciences, Testis, Exome Sequencing, Genetics, medicine, Male Infertility, Humans, Missense mutation, Exome, Spermatogenesis, Genetics (clinical), Aged, Azoospermia, 030304 developmental biology, 0303 health sciences, TERB2, Homozygote, 030305 genetics & heredity, Membrane Proteins, TERB1, Telomere, medicine.disease, Phenotype, Doenças Genéticas, Non-obstructive azoospermia (NOA), DNA-Binding Proteins, Meiosis, medicine.anatomical_structure, MAJIN, Germ cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0102fb1d9a027828d93b241f12c89f9bTest
https://doi.org/10.1007/s00439-020-02236-1Test -
2
المؤلفون: V. Samuel Raj, Ramendra Pati Pandey, Ghulam Mohammad, Arpana Vibhuti, Manjula Miglani, Archana Gupta, Manjari Rain, Qadar Pasha, Tashi Thinlas
المصدر: Human Molecular Genetics. 29:3094-3106
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Telomerase, DNA Repair, Genotype, DNA damage, Hypertension, Pulmonary, Altitude Sickness, Biology, law.invention, 03 medical and health sciences, 0302 clinical medicine, Downregulation and upregulation, law, Internal medicine, High-altitude pulmonary edema, Genetics, medicine, Humans, Genetic Predisposition to Disease, Hypoxia, Molecular Biology, Alleles, Genetic Association Studies, Genetics (clinical), Polymerase chain reaction, Aged, Tankyrases, Altitude, Telomere Homeostasis, Heterozygote advantage, General Medicine, Middle Aged, Telomere, medicine.disease, Pulmonary edema, Healthy Volunteers, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Female, Polymorphism, Restriction Fragment Length, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe063af0e599fa626ebe853e4fae511fTest
https://doi.org/10.1093/hmg/ddaa205Test -
3
المؤلفون: Patrick Byanyima, Emmanuel Musisi, Ingvar Sanyu, William Worodria, Emily Chang, Jue Lin, Stephanie X. Wang, Abdul Sessolo, Laurence Huang, P.F. Huang, J. Lucian Davis
المصدر: Journal of Human Genetics. 64:1033-1040
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Tuberculosis, Telomere-Binding Proteins, Population, Human immunodeficiency virus (HIV), HIV Infections, Single-nucleotide polymorphism, 030105 genetics & heredity, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Cohort Studies, 03 medical and health sciences, Internal medicine, Leukocytes, Genetics, medicine, Humans, Allele, education, Telomerase, Alleles, Genetics (clinical), Demography, education.field_of_study, Confounding, DNA Helicases, Telomere, medicine.disease, 030104 developmental biology, Ribonucleoproteins, Africa, Cohort, RNA, Female, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3c26fe1bdbb06d84a16b029f29082bTest
https://doi.org/10.1038/s10038-019-0646-9Test -
4
المؤلفون: Kevin Norris, Mark J. Ponsford, Tom Vulliamy, Inderjeet Dokal, Amanda J. Walne, Jenna Alnajar, Alicia Ellison, Julia W. Grimstead, Kez Cleal, Duncan M. Baird
المصدر: Human Genetics
مصطلحات موضوعية: Adult, Male, Oncology, Heterozygote, medicine.medical_specialty, Adolescent, Biology, Severity of Illness Index, Asymptomatic, Dyskeratosis Congenita, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Aged, Original Investigation, 030304 developmental biology, 0303 health sciences, Fetal Growth Retardation, Telomere biology, Genetic Carrier Screening, Age Factors, Infant, Telomere Homeostasis, Retrospective cohort study, Bone Marrow Failure Disorders, Middle Aged, Telomere, Survival Analysis, Human genetics, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Clinical diagnosis, Asymptomatic Diseases, Mutation (genetic algorithm), Cohort, Microcephaly, Female, medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8682a77e8c84d1ff11a112aae6e388e7Test
https://orca.cardiff.ac.uk/id/eprint/137651/7/Norris2021_Article_High-throughputSTELAProvidesAR.pdfTest -
5
المؤلفون: Jonas Goergens, Gökhan Yigit, Peter Nürnberg, Mark Helm, Dagmar Wieczorek, Tobias Kohl, Barbara Leube, Tatiana Pochechueva, Jörg Isensee, Christian Müller, Janine Altmüller, Bernd Wollnik, Julia Schmidt, Annika Kotter, Gabriela Salinas, Niko Schwenzer, Gesa Werner, Stephan E. Lehnart, H. Christian Reinhardt, Maren Sitte, Holger Thiele, Yun Li, Tim Hucho, Ron D. Jachimowicz
المصدر: Human Genetics
مصطلحات موضوعية: Genome instability, Male, DNA damage, DNA repair, Developmental Disabilities, Medizin, Biology, medicine.disease_cause, Genomic Instability, Consanguinity, Progeria, RNA, Transfer, GTP-Binding Proteins, Genetics, medicine, Missense mutation, Humans, Gene, Genetics (clinical), Alleles, Telomere Shortening, Original Investigation, Mutation, Genome, Human, Sequence Analysis, RNA, Homozygote, Infant, Newborn, RNA-Binding Proteins, Phenotype, Telomere, Pedigree, Technology Platforms, DNA Damage
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d9273d91261551737195274b279feeTest
https://pubmed.ncbi.nlm.nih.gov/34545459Test -
6
المؤلفون: Jason C. S. Yam, Keith T.S. Tung, Hing-Wai Tsang, Wilfred Hing Sang Wong, Patrick Ip, Marco Ho, Kate C Chan, Ian C. K. Wong, Dicky Chan, Rosa S. Wong, Gilbert T. Chua, Godfrey Chi-Fung Chan, Clement C Y Tham
المصدر: Genes, Vol 12, Iss 766, p 766 (2021)
Genes
Volume 12
Issue 5مصطلحات موضوعية: Male, Aging, Adolescent, Early adolescence, Buccal swab, Inflammation, QH426-470, medicine.disease_cause, Article, Atopy, 03 medical and health sciences, 0302 clinical medicine, rhinitis, Food allergy, medicine, telomere length, Genetics, Humans, Telomere Shortening, Genetics (clinical), Asthma, business.industry, asthma, medicine.disease, Telomere, body regions, Oxidative Stress, 030228 respiratory system, Immunology, Female, adolescence, medicine.symptom, business, Food Hypersensitivity, 030217 neurology & neurosurgery, Oxidative stress, snoring
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91221c24a11c22dbcc5f2b023f69c41eTest
https://www.mdpi.com/2073-4425/12/5/766Test -
7
المؤلفون: David Sillence, Fuki M. Hisama, Christian Kubisch, Davor Lessel, Michael O. Dorschner, Débora Rossi Precioso, George M. Martin, Forough Sargolzaeiaval, Junko Oshima, Jennifer Schleit, Jiaming Zhang
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Telomere-Binding Proteins, Biology, Compound heterozygosity, Cell Line, Fractures, Bone, 03 medical and health sciences, Genetics, medicine, Humans, Missense mutation, DNA Breaks, Double-Stranded, Allele, progeroid syndrome, Molecular Biology, Genetics (clinical), Exome sequencing, Werner syndrome, Telomere-binding protein, Mendelian disorders, Progeria, Original Articles, Middle Aged, Telomere, genomic instability, telomeres, medicine.disease, GC Rich Sequence, Pedigree, 3. Good health, Phenotype, 030104 developmental biology, molecular genetics, Mutation, Original Article, CTC1, Female, Werner Syndrome, Cerebroretinal microangiopathy with calcifications and cysts, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48606107749c761cbe0967b9859091ceTest
https://doi.org/10.1002/mgg3.495Test -
8
المؤلفون: Satoshi Hara, Hitomi Yatsuki, Ken Higashimoto, Hidenobu Soejima, Hidefumi Tonoki, Hijiri Watanabe, Tomoharu Tokutomi, Yuka Tanoue
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Male, 0301 basic medicine, Centromere, Regulatory Sequences, Nucleic Acid, 030105 genetics & heredity, Biology, 03 medical and health sciences, Insulin-Like Growth Factor II, Catalytic Domain, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Allele, Child, Promoter Regions, Genetic, Psychological repression, Genetics (clinical), Silver–Russell syndrome, Methylation, DNA Methylation, Telomere, medicine.disease, female genital diseases and pregnancy complications, Silver-Russell Syndrome, 030104 developmental biology, CTCF, Child, Preschool, DNA methylation, Female, imprinting
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712ed2c494fb3cdde30bb13fd0901211Test
https://doi.org/10.1136/jmedgenet-2020-106907Test -
9
المؤلفون: Cheuk-Kwan Sun, Yuan-Ping Lin, Tien-Hung Huang, Yi-Ling Chen, Hon-Kan Yip, Jiunn-Jye Sheu
المصدر: Molecular Medicine, Vol 26, Iss 1, Pp 1-12 (2020)
Molecular Medicineمصطلحات موضوعية: Male, 0301 basic medicine, Vascular smooth muscle, Angiogenesis, Cell, Proliferation, 030204 cardiovascular system & hematology, Exosomes, Muscle, Smooth, Vascular, chemistry.chemical_compound, 0302 clinical medicine, Medicine, Carotid Stenosis, lcsh:QD415-436, Hypoxia, Cells, Cultured, Cellular Senescence, Genetics (clinical), medicine.anatomical_structure, Molecular Medicine, Female, Disease Susceptibility, Research Article, Senescence, Myocytes, Smooth Muscle, lcsh:Biochemistry, 03 medical and health sciences, microRNA, Genetics, Vascular smooth muscle cells, Animals, Humans, Antagomir, microRNA-214, Molecular Biology, Cell Proliferation, business.industry, Cell growth, lcsh:RM1-950, Cholesterol, LDL, Rats, Telomere, MicroRNAs, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, chemistry, Cancer research, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce707accd5b91cdcf9eb6775fc5b9f7Test
http://link.springer.com/article/10.1186/s10020-020-00167-1Test -
10
المؤلفون: Anna Fouty, Vaithinathan Selvaraju, Thangiah Geetha, Megan Phillips, Jeganathan Ramesh Babu
المصدر: Genes, Vol 12, Iss 78, p 78 (2021)
Genes
Volume 12
Issue 1مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pediatric Obesity, Heart disease, lcsh:QH426-470, 030209 endocrinology & metabolism, Overweight, Childhood obesity, Article, White People, 03 medical and health sciences, 0302 clinical medicine, Heart Rate, Internal medicine, Diabetes mellitus, Heart rate, Genetics, medicine, telomere length, Humans, Child, race, Genetics (clinical), health disparities, business.industry, Telomere Homeostasis, blood pressure, Blood Pressure Determination, Health Status Disparities, Telomere, medicine.disease, Obesity, Black or African American, lcsh:Genetics, 030104 developmental biology, Blood pressure, Endocrinology, Biomarker (medicine), Female, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f99a2c1978620c7f058358c99bf952Test
https://www.mdpi.com/2073-4425/12/1/78Test