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1دورية أكاديمية
المؤلفون: Kandt, RS, Haines, JL, Smith, M, Northrup, H, Gardner, RJ, Short, MP, Dumars, K, Roach, ES, Steingold, S, Wall, S
المصدر: Nature genetics. 2(1)
مصطلحات موضوعية: Chromosomes, Human, Pair 16, Humans, Polycystic Kidney, Autosomal Dominant, Tuberous Sclerosis, Genetic Markers, Pedigree, Genes, Dominant, Lod Score, Alleles, Female, Male, Genetic Linkage, Chromosomes, Human, Pair 16, Polycystic Kidney, Autosomal Dominant, Genes, Dominant, allele, article, chromosome 16, dominant gene, female, genetic linkage, genetic marker, genetics, human, kidney polycystic disease, male, pedigree, tuberous sclerosis, Linkage, Support, Non-U.S. Gov't, U.S. Gov't, P.H.S., Medical and Health Sciences, Biological Sciences, Developmental Biology, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S.
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2sd6j0xcTest
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المؤلفون: Kamran Guity, Maryam S. Daneshpour, Fereidoun Azizi, Farid Zayeri, Yadollah Mehrabi, Nima Hosseinzadeh
المصدر: Gene. 692:156-169
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Single-nucleotide polymorphism, Iran, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, Pleiotropy, Plasma lipids, Genetics, Humans, SNP, Solute Carrier Family 12, Member 3, Gene, Triglycerides, Genetic association, Cholesterol, HDL, Intracellular Signaling Peptides and Proteins, RNA-Binding Proteins, Genetic Pleiotropy, General Medicine, Middle Aged, Lipids, Cholesterol Ester Transfer Proteins, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Family based, Chromosomes, Human, Pair 16, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf12aafba76e73c6fb446a06436025f8Test
https://doi.org/10.1016/j.gene.2019.01.007Test -
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المؤلفون: Jeanette Erdmann, Klaus Berger, André G. Uitterlinden, Andre Franke, Nathalie van der Velde, Yvonne Jockel-Schneider, Matthias Laudes, Jürgen Wellmann, Bruno G. Loos, Alexander Teumer, Kimon Divaris, Wolfgang Lieb, Matthias Munz, Gesa M. Richter, Ingmar Staufenbiel, Corinna Bruckmann, Lisette C. P. G. M. de Groot, Arne S. Schaefer, Christian Graetz, Ilyas Ahmad, Bastian Krone, Thomas Kocher, Per Hoffmann, Henrik Dommisch, Steven Offenbacher, Birte Holtfreter, Søren Jepsen
المساهمون: Geriatrics, APH - Aging & Later Life, AMS - Ageing & Morbidty, Parodontologie (OII, ACTA), Internal Medicine, Periodontology
المصدر: European journal of human genetics, 27(1), 102-113. Nature Publishing Group
Munz, M, Richter, G M, Loos, B G, Jepsen, S, Divaris, K, Offenbacher, S, Teumer, A, Holtfreter, B, Kocher, T, Bruckmann, C, Jockel-Schneider, Y, Graetz, C, Ahmad, I, Staufenbiel, I, van der Velde, N, Uitterlinden, A G, de Groot, L C P G M, Wellmann, J, Berger, K, Krone, B, Hoffmann, P, Laudes, M, Lieb, W, Franke, A, Erdmann, J, Dommisch, H & Schaefer, A S 2019, ' Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci ', European Journal of Human Genetics, vol. 27, no. 1, pp. 102-113 . https://doi.org/10.1038/s41431-018-0265-5Test
European Journal of Human Genetics 27 (2019) 1
European Journal of Human Genetics, 27(1), 102-113. Nature Publishing Group
European Journal of Human Genetics, 27(1), 102-113مصطلحات موضوعية: 0301 basic medicine, Medizin, Genome-wide association study, Disease, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, Genotype, Genetics, medicine, Aggressive periodontitis, Humans, Life Science, Periodontitis, Genetics (clinical), Genetic association, VLAG, Global Nutrition, Wereldvoeding, Polymorphism, Genetic, 030206 dentistry, medicine.disease, Chronic periodontitis, 030104 developmental biology, Genetic Loci, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8, Genome-Wide Association Study
وصف الملف: text/html; application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0df74e229243d636567ddf9958b6f73aTest
https://doi.org/10.1038/s41431-018-0265-5Test -
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المؤلفون: William A. Gahl, Lynne A. Wolfe, Xenia Chepa-Lotrea, Cynthia J. Tifft, May Christine V. Malicdan, Mariska Davids, Thomas C. Markello
المصدر: Human Mutation. 40:42-47
مصطلحات موضوعية: Adult, WWOX, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Exon, Chromosome 16, Intellectual disability, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Tumor Suppressor Proteins, Epileptic encephalopathy, Homozygote, 030305 genetics & heredity, Infant, Uniparental Disomy, medicine.disease, Uniparental disomy, WW Domain-Containing Oxidoreductase, Etiology, Female, Chromosome Deletion, Spasms, Infantile, Chromosomes, Human, Pair 16, Heparan Sulfate Proteoglycans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1840b4fcf29721bcf619d7fe9acb0272Test
https://doi.org/10.1002/humu.23675Test -
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المؤلفون: Caiqun Luo, Niping Jiang, Mei Zhong, Jiansheng Xie, Shengli Li, Guanglin Zhang, Yang Liu, Hui Wang
المصدر: Fetal and Pediatric Pathology. 37:452-464
مصطلحات موضوعية: 0301 basic medicine, Placenta, Intrauterine growth restriction, 030105 genetics & heredity, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, Pregnancy, medicine, Humans, Clinical significance, Genetics, Fetus, Fetal Growth Retardation, 030219 obstetrics & reproductive medicine, Microarray analysis techniques, business.industry, Chromosome, General Medicine, Uniparental Disomy, medicine.disease, Uniparental disomy, Pediatrics, Perinatology and Child Health, Female, business, Chromosomes, Human, Pair 16
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad7206155062b49935efed4d03f84104Test
https://doi.org/10.1080/15513815.2018.1538275Test -
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المؤلفون: Bouchra Oukkache, Khadija Gamraoui, Mohamed Zaidani, Nazha. Hda, Safaa Mghinia
المصدر: Annales de biologie clinique. 78(2)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Chromosomes, Human, Pair 22, Cytodiagnosis, Trisomy, Biology, Trisomy 22, Immunophenotyping, Chromosome 16, Pathognomonic, hemic and lymphatic diseases, Eosinophilic, medicine, Humans, Auer rod, Myeloid leukemia, Karyotype, General Medicine, medicine.disease, Leukemia, Myeloid, Acute, Karyotyping, Chromosome Inversion, Cytogenetic Analysis, Chromosomes, Human, Pair 16
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aef0cac6c2b28b9839041301c266e05Test
https://pubmed.ncbi.nlm.nih.gov/32319947Test -
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المؤلفون: Mariann Tihanyi, Anna Lengyel, György Fekete, Irén Haltrich, Dezső David, Kálmán Tory, Zsuzsa Tóth, Eva Pinti, Eszter Jávorszky, Éva Gönczi, Eszter Kiss, Henriett Pikó
المصدر: European journal of medical genetics. 63(10)
مصطلحات موضوعية: 0301 basic medicine, Male, Tomography Scanners, X-Ray Computed, DNA Copy Number Variations, Autism Spectrum Disorder, Developmental Disabilities, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 16, Segmental Duplications, Genomic, Intellectual Disability, Genotype, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Obesity, Child, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Segmental duplication, Sequence Deletion, Chromosome Aberrations, Hungary, medicine.diagnostic_test, business.industry, Chromosome, Brain, Infant, General Medicine, medicine.disease, Microarray Analysis, Magnetic Resonance Imaging, Doenças Genéticas, 030104 developmental biology, Gene Ontology, Phenotype, Child, Preschool, Autism, Female, business, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afaad85c76e326d8e35fa8606599cb6bTest
https://pubmed.ncbi.nlm.nih.gov/32758661Test -
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المؤلفون: Gerarda Cappuccio, Marianna Alagia, Taneli Vaisanen, Diletta Apuzzo, Nicola Brunetti-Pierri, Rita Genesio, Piero Pignataro
المساهمون: Apuzzo, D., Cappuccio, G., Vaisanen, T., Alagia, M., Pignataro, P., Genesio, R., Brunetti-Pierri, Nicola
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Developmental Disabilities, Chromosome Disorders, 030105 genetics & heredity, Biology, GTP-Binding Protein alpha Subunits, Gi-Go, 16q12.1q21, Short stature, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Chromosome 16, Intellectual disability, Genetics, medicine, Humans, Strabismus, Child, Genetics (clinical), Homeodomain Proteins, Cleavage And Polyadenylation Specificity Factor, Chromosome, GNAO1, General Medicine, Syndrome, medicine.disease, 030104 developmental biology, Autism spectrum disorder, 16q interstitial deletion, Metallothionein, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 16, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8742b228103aab6ac014a0be94c6cc62Test
http://hdl.handle.net/11588/795172Test -
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المؤلفون: Jack Satsangi
مصطلحات موضوعية: Genetic Markers, Candidate gene, Genetic Linkage, Disease, Human leukocyte antigen, Environment, Inflammatory bowel disease, Major Histocompatibility Complex, Chromosome 16, Crohn Disease, Genetic linkage, HLA Antigens, medicine, Humans, General Dentistry, Chromosome 12, Genetics, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 12, Models, Genetic, business.industry, Genome, Human, General Medicine, medicine.disease, Inflammatory Bowel Diseases, Ulcerative colitis, Immunology, Chromosomes, Human, Pair 6, Colitis, Ulcerative, Disease Susceptibility, business, Chromosomes, Human, Pair 16
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f1b12147e35ae9b2deba51e7be0d51Test
https://doi.org/10.1080/000163501750266800Test -
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المؤلفون: Peih Shan Wu, Tsang Ming Ko, Chien Wen Yang, Shin Wen Chen, Wayseen Wang, Chen Wen Pan, Chih-Ping Chen, Shih Ting Lai, Schu Rern Chern
المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 56, Iss 4, Pp 545-549 (2017)
مصطلحات موضوعية: 0301 basic medicine, Adult, Genetic Markers, Male, Down syndrome, Small supernumerary marker chromosome, Marker chromosome, Karyotype, Prenatal diagnosis, Gestational Age, Trisomy, 030105 genetics & heredity, 16q11.2-q22.1 duplication, lcsh:Gynecology and obstetrics, Andrology, 03 medical and health sciences, Pregnancy, medicine, Humans, In Situ Hybridization, Fluorescence, lcsh:RG1-991, Genetics, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Mosaicism, Infant, Newborn, Obstetrics and Gynecology, Chromosome 16, medicine.disease, Uniparental disomy, 030104 developmental biology, Karyotyping, Cytogenetic Analysis, Amniocentesis, Female, business, Live Birth, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f294055e866bbe67ec16fc234563d381Test
http://www.sciencedirect.com/science/article/pii/S1028455917301559Test