المؤلفون: R, Ankathil, W N A, Zakaria, H V, Rostenberghe, N R, Ibrahim, N, Ramli, S M, Ismail, N A, Mohd Nawi, N M Z, Mat Zin, Z, Abu Bakar, N F S, Rasudin, B H, Chia, N A, Mohd Adam, N, Mohd Yunus, A A, Annuar, S, Sulong, Z, Alwi

المصدر: The Malaysian journal of pathology. 44(2)

مصطلحات موضوعية: Adult, Parents, Chromosomes, Human, Pair 13, Trisomy 13 Syndrome, Karyotype, Infant, Newborn, Malaysia, Trisomy, Aneuploidy, Humans, Female, Down Syndrome, Chromosomes, Human, Pair 18, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3932f6ea1bdf5b8fca973f6c49d7121dTest
https://pubmed.ncbi.nlm.nih.gov/36043586Test

المؤلفون: Gabriela Forestieri, Lorenzo De Paoli, Silvia Rasi, Sruthi Sagiraju, Annalisa Andorno, Gianluca Gaidano, Ramesh Adhinaveni, Lodovico Terzi di Bergamo, Riccardo Moia, Valentina Ferri, Chiara Favini, Davide Rossi, Wael Al Essa, Donatella Talotta, Gloria Margiotta Casaluci, Andrea Patriarca, Mattia Schipani, Renzo Boldorini

المصدر: British Journal of Haematology

مصطلحات موضوعية: Male, DNA Copy Number Variations, Biopsy, Short Report, Lymph node biopsy, small lymphocytic lymphoma, Disease, Biology, Gene mutation, Lymphocytic lymphoma, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Piperidines, multiregional sequencing, medicine, Humans, Liquid biopsy, Haematological malignancy–Clinical, Aged, 030304 developmental biology, Chromosome Aberrations, 0303 health sciences, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 13, Genes, Immunoglobulin, liquid biopsy, medicine.diagnostic_test, Adenine, DNA, Neoplasm, Hematology, Middle Aged, Leukemia, Lymphocytic, Chronic, B-Cell, Predictive value, 3. Good health, chemistry, 030220 oncology & carcinogenesis, Mutation, Cancer research, Female, Immunotherapy, Lymph Nodes, Chromosome Deletion, Immunoglobulin Heavy Chains, DNA, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb23730d0c8ef90b91b7c710a995bd28Test
https://doi.org/10.1111/bjh.17718Test

المؤلفون: Marius Lund-Iversen, Ludmila Gorunova, Sverre Heim, Ioannis Panagopoulos

المصدر: Anticancer Research. 41:3747-3751

مصطلحات موضوعية: Male, Comparative Genomic Hybridization, Cancer Research, Monosomy, medicine.medical_specialty, Pathology, Chromosomes, Human, Pair 13, Cytogenetics, Comparative Genome Hybridization, Karyotype, General Medicine, Mammary myofibroblastoma, Biology, Lipoma, medicine.disease, Chromosome Banding, Neoplasms, Muscle Tissue, Oncology, Karyotyping, medicine, Humans, Myofibroblastoma, Aged, Chromosome 13

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faebe47278a4b3dd6253896e31cc4c3fTest
https://doi.org/10.21873/anticanres.15166Test

المؤلفون: Ruizhi Liu, Xiaonan Hu, Hongguo Zhang, Qingyang Shi, Leilei Li, Yuting Jiang, Zhu-Ming Hu

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 3, Pp 554-558 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Amniotic fluid, Karyotype, Ring chromosome, Prenatal diagnosis, Chromosome Disorders, Young Adult, Pregnancy, Humans, Medicine, Ring Chromosomes, Increased nuchal translucency, Gynecology, Fetus, Chromosomes, Human, Pair 13, medicine.diagnostic_test, Mosaicism, business.industry, Obstetrics and Gynecology, Gynecology and obstetrics, Microarray Analysis, Nuchal translucency, Karyotyping, Cytogenetic Analysis, Amniocentesis, RG1-991, Gestation, Female, Nuchal Translucency Measurement, business, Abortion, Eugenic, Chromosomal microarray analysis, Genetic counseling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd08d0c2942e7d9c557ec34ffa70fa5Test
https://doi.org/10.1016/j.tjog.2021.03.031Test

المؤلفون: Murat Kaya, Ilknur Suer, Tugba Kalayci, Birsen Karaman, Sukru Ozturk, Sukru Palanduz

المصدر: Scottish medical journal. 67(4)

مصطلحات موضوعية: Male, Chromosomes, Human, Pair 13, Chromosomal Proteins, Non-Histone, Intellectual Disability, Karyotyping, Infertility, Humans, Ring Chromosomes, General Medicine, Phosphoproteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986382ba613f3c74e308f3a8967ecc7bTest
https://pubmed.ncbi.nlm.nih.gov/35862016Test

المؤلفون: Irene M. Ghobrial, Vignesh Shanmugam, Juerg R. Straubhaar, Tomasz Sewastianik, Petr Jarolim, Mehmet Kemal Samur, Peter S. Dennis, Nikhil C. Munshi, Ruben D. Carrasco, Vinodh Pillai, Mary L. Bouxsein, David M. Dorfman, Jianjun Zhao, Jianli Wang, Helen Tanton, Jianhong Lin, Geraldine S. Pinkus, Daniel J. Brooks, Omar Nadeem, Ying Huang, Davide F. Robbiani, Bogdan Budnik, Meng Jiang, Keith Adler, Kenneth C. Anderson

المصدر: Blood

مصطلحات موضوعية: Plasma Cells, Immunology, Chromosome Disorders, Plasma cell, Biology, Biochemistry, medicine, Animals, Humans, Neoplasms, Plasma Cell, Multiple myeloma, B-Lymphocytes, Lymphoid Neoplasia, Chromosomes, Human, Pair 13, Germinal center, Cancer, Chromosome, Cell Biology, Hematology, medicine.disease, Molecular biology, Lymphoma, Gene Expression Regulation, Neoplastic, Mice, Inbred C57BL, MicroRNAs, medicine.anatomical_structure, Multigene Family, Lymphoma, Large B-Cell, Diffuse, Bone marrow, Hyperdiploidy, Chromosome Deletion, Multiple Myeloma, Gene Deletion, Plasmacytoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9af4e9d01b7dc0db27575d81e956889Test
https://doi.org/10.1182/blood.2020009088Test

المؤلفون: Hreinn Stefansson, Esben Agerbo, Konstantinos Kamperis, Ole Mors, Viðar Örn Eðvarðsson, Thomas Werge, Ditte Demontis, Jane H. Christensen, Veera M. Rajagopal, Mette Nyegaard, Merete Nordentoft, Jakob Grove, Thomas Damm Als, Preben Bo Mortensen, Anders D. Børglum, Henriette Thisted Horsdal, Cecilie Siggaard Jørgensen, G. Bragi Walters, Kari Stefansson, David M. Hougaard, Søren Rittig

المصدر: Jørgensen, C S, Horsdal, H T, Rajagopal, V M, Grove, J, Als, T D, Kamperis, K, Nyegaard, M, Walters, G B, Eðvarðsson, V Ö, Stefánsson, H, Nordentoft, M, Hougaard, D M, Werge, T, Mors, O, Mortensen, P B, Agerbo, E, Rittig, S, Stefánsson, K, Børglum, A D, Demontis, D & Christensen, J H 2021, ' Identification of genetic loci associated with nocturnal enuresis : a genome-wide association study ', The Lancet Child and Adolescent Health, vol. 5, no. 3, pp. 201-209 . https://doi.org/10.1016/S2352-4642Test(20)30350-3

مصطلحات موضوعية: Male, Autism Spectrum Disorder, Genome-wide association study, Nocturnal, 03 medical and health sciences, 0302 clinical medicine, Enuresis, 030225 pediatrics, Developmental and Educational Psychology, medicine, Humans, Deamino Arginine Vasopressin, 030212 general & internal medicine, Child, Desmopressin, Chromosome 13, Genetics, Chromosomes, Human, Pair 13, business.industry, Genetic Variation, medicine.disease, Genetic architecture, Phenotype, Attention Deficit Disorder with Hyperactivity, Genetic Loci, Autism spectrum disorder, Pediatrics, Perinatology and Child Health, Cohort, Chromosomes, Human, Pair 6, Female, medicine.symptom, business, Genome-Wide Association Study, Nocturnal Enuresis, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489d4081140e133353f9a91e999e2b55Test
https://doi.org/10.1016/s2352-4642Test(20)30350-3

المؤلفون: Rosa, Rafael Fabiano M., Sarmento, Melina Vaz, Polli, Janaina Borges, Groff, Daniela de Paoli, Petry, Patrícia, Mattos, Vinícius Freitas de, Rosa, Rosana Cardoso M., Trevisan, Patrícia, Zen, Paulo Ricardo G.

المصدر: Revista Paulista de Pediatria. December 2013 31(4)

مصطلحات موضوعية: chromosomes, human, pair 13, chromosome aberrations, infant, premature, Apgar score, prenatal diagnosis, prognosis

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822013000400459Test

المؤلفون: Nancy Kiwan, Peter W.R. Woodruff, Colin A. Johnson, Anneka Tomlinson, Steven J. Clapcote, Hassen Al-Amin, Iain D. Wilkinson, Sophia Ahmed, Joanna C. Neill, Jamshid Nazari, Ahmed H Al-Amri, Chris F. Inglehearn, Rifka S Chamali, Manir Ali, Tariq Mahmood, Mohammed E El-Asrag, Juliette Randerson Moor, Suhaila Ghuloum, Shabana Khan, Alastair G. Cardno, Hamid A. Alhaj, James A. Poulter

المصدر: Schizophrenia Bulletin

مصطلحات موضوعية: Male, AcademicSubjects/MED00810, Endophenotypes, Genes, Recessive, Locus (genetics), Biology, DNA sequencing, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Humans, consanguineous/endophenotype/homozygosity/ chromosome 13q/risk haplotype, Genetic Predisposition to Disease, Gene, Exome, 030304 developmental biology, Genetics, 0303 health sciences, Chromosomes, Human, Pair 13, Haplotype, Disease gene identification, Pedigree, Minor allele frequency, Psychiatry and Mental health, Psychotic Disorders, Genetic Loci, Endophenotype, Schizophrenia, Female, 030217 neurology & neurosurgery, Regular Articles

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd63b2e3dc9d25cbc8977f0f37b9713Test
https://doi.org/10.1093/schbul/sbaa161Test

المؤلفون: Mariana Deacu, Georgeta Camelia Cozaru, Mădălina Boșoteanu, Mariana Așchie, Anca Florentina Mitroi, Costel Brînzan, Cristian Ionuț Orășanu

المصدر: Fetal and Pediatric Pathology. 41:698-700

مصطلحات موضوعية: Trisomy 13 Syndrome, Population, Chromosomal disorder, Trisomy, Autopsy, Appendix, Dinosaurs, Pathology and Forensic Medicine, stomatognathic system, medicine, Animals, Humans, education, education.field_of_study, Chromosomes, Human, Pair 13, business.industry, General Medicine, Anatomy, medicine.disease, digestive system diseases, humanities, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3b493e4554fa13e82bc7ca31e131388Test
https://doi.org/10.1080/15513815.2021.1926020Test