المؤلفون: Liang Chang, Ping Liu, Chan Tian, Dan Li, Yun Wang, Nan Zhao, Qiao Jie

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, Preimplantation genetic testing for chromosomal structural rearrengements (PGT-SR), Prenatal diagnosis, Case Report, Biology, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, Homologous chromosome, medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Preimplantation Diagnosis, Sex Chromosome Aberrations, Genetic testing, Parental iUPD (9), 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Cytogenetics, Infant, Newborn, Pregnancy Outcome, Karyotype, Uniparental Disomy, medicine.disease, Uniparental disomy, lcsh:Genetics, 030104 developmental biology, Phenotype, Chromosomes, Human, Pair 1, Amniocentesis, Mosaic Klinefelter syndrome, Female, Genomic imprinting, Comparative genomic hybridization, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39df930a8772123162b6f6608d73ce1Test
http://link.springer.com/article/10.1186/s12881-019-0897-5Test

المؤلفون: Andrew H. Crosby, Emma L. Baple, Chloe Payne, Asma Gul, Claire Prince, Abida Akbar, Gaurav V. Harlalka, Wasim Ahmad, James Fasham

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Genetics

مصطلحات موضوعية: Male, Exome sequencing, 0301 basic medicine, 030105 genetics & heredity, medicine.disease_cause, DSG1, Keratoderma, Palmoplantar, Ethnicity, Antigens, Ly, Pakistan, Variant, Child, Genetics (clinical), media_common, Genetics, Mutation, Desmoglein 1, Homozygote, Middle Aged, Pedigree, 3. Good health, SLURP1, Codon, Nonsense, Female, Research Article, Adult, Heterozygote, lcsh:Internal medicine, Adolescent, Genotype, lcsh:QH426-470, media_common.quotation_subject, Nonsense, Hyperkeratosis, Biology, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Palmoplantar keratoderma, lcsh:RC31-1245, Genetic Association Studies, Genetic heterogeneity, Genodermatosis, Genetic Variation, medicine.disease, Urokinase-Type Plasminogen Activator, Human genetics, lcsh:Genetics, 030104 developmental biology, Mal de Meleda

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1177f132c6f4bacf94c73daba6f7e840Test
http://link.springer.com/article/10.1186/s12881-019-0872Test-1

المؤلفون: Roland L. Dunbrack, Qifang Xu, Friedrich Kueppers, Mark Andrake, Joannah Kim, Christopher Sanders

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-19 (2019)
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Models, Molecular, Protein Conformation, alpha-Helical, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, RNA Splicing, 030105 genetics & heredity, Biology, 03 medical and health sciences, Sequence Analysis, Protein, alpha 1-Antitrypsin Deficiency, Genetics, medicine, Humans, Allele, lcsh:RC31-1245, Gene, Genotyping, Genetics (clinical), Aged, Aged, 80 and over, Alpha 1-antitrypsin deficiency, FoldX, Alpha 1 Antitrypsin Deficiency, Virulence, Cytogenetics, Genetic Variation, High-Throughput Nucleotide Sequencing, Rare variants, Middle Aged, Pennsylvania, medicine.disease, Stop codon, Human genetics, 3. Good health, lcsh:Genetics, 030104 developmental biology, Amino Acid Substitution, alpha 1-Antitrypsin, Female, SERPINA1, Protein modeling, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c6a2167b1d86bb6cfd2574abe0b4d57Test
http://link.springer.com/article/10.1186/s12881-019-0852-5Test

المؤلفون: Yi-Kun Zhou, Yun Zheng, Li Liu, Xiao-Chun Yang, Zhi Liang, Heng Su, Yang Cao

المصدر: BMC Medical Genetics, Vol 19, Iss S1, Pp 1-9 (2018)
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Small Indel, Trichothiodystrophy, Hypergonadotropic hypogonadism, Gene Expression, 030105 genetics & heredity, medicine.disease_cause, Trichothiodystrophy nonphotosensitive 1 (TTDN1), Protein Interaction Mapping, Trichothiodystrophy Syndromes, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Homozygote, Exons, Pedigree, Phenotype, symbols, Female, Adult, medicine.medical_specialty, lcsh:Internal medicine, dbSNP, Adolescent, lcsh:QH426-470, Genes, Recessive, 03 medical and health sciences, symbols.namesake, Intellectual Disability, MPLKIP, Genetics, medicine, Humans, lcsh:RC31-1245, Adaptor Proteins, Signal Transducing, Base Sequence, business.industry, Research, Hypogonadism, Cytogenetics, medicine.disease, Human genetics, Mutagenesis, Insertional, lcsh:Genetics, 030104 developmental biology, business, Sulfur, Hair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a47f21a8dfd9fe28020d464546cce8Test
http://link.springer.com/article/10.1186/s12881-018-0723-5Test

المؤلفون: Mayumi Tamari, Satoshi Konno, Emiko Noguchi, Yoshiko Kaneko, Haruna Kitazawa, Takashi Naito, Hiroaki Iijima, Jun Kanazawa, Hironori Masuko, Tohru Sakamoto, Yohei Yatagai, Tomomitsu Hirota, Takefumi Saito, Masaharu Nishimura, Nobuyuki Hizawa

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Adult, 0301 basic medicine, lcsh:Internal medicine, Endotype, YKL-40, lcsh:QH426-470, Quantitative Trait Loci, Genome-wide association study, Late onset, 030105 genetics & heredity, Chitinase 3-like 1 (CHI3L1), CHI3L1, Cohort Studies, Atopy, 03 medical and health sciences, Japan, Genetics, Humans, Medicine, Chitinase-3-Like Protein 1, Age of Onset, lcsh:RC31-1245, Expression quantitative trait loci (eQTLs), Alleles, Genetics (clinical), Asthma, business.industry, Late-onset adult asthma, Odds ratio, medicine.disease, respiratory tract diseases, lcsh:Genetics, Phenotype, 030104 developmental biology, Case-Control Studies, Immunology, Cohort, business, Research Article, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e0ff6181d8849e054dc8b5a25dbf032Test
https://doi.org/10.1186/s12881-019-0786-yTest

المؤلفون: Yingxiu Luo, Yefei Wang, Renbing Jia, Chuandi Zhou, Peiwei Chai, Xianqun Fan

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, medicine.medical_specialty, China, Orbital/periorbital plexiform neurofibroma (OPPN), Neurofibromatosis 1, lcsh:QH426-470, Adolescent, Genetic counseling, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Young Adult, Orbital neurofibromatosis, 0302 clinical medicine, Genes, Neurofibromatosis 1, Genetics, Medicine, Humans, Neurofibromatosis, Neurofibromin 1 (NF1) mutation, lcsh:RC31-1245, Child, Genetics (clinical), Retrospective Studies, Sanger sequencing, business.industry, Cytogenetics, Middle Aged, medicine.disease, Human genetics, eye diseases, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Mutation, Mutation testing, symbols, Female, business, Orbit, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c71d533c1ff3595ec5db06d509005e3Test
https://pubmed.ncbi.nlm.nih.gov/31533651Test

المؤلفون: Yosuke Shimizu, Hirofumi Tazawa, Takao Hinoi, Shintaro Akabane, Takeshi Sudo, Hideki Yamamoto, Haruna Kubota, Toshihiro Misumi, Naoto Hadano, Takashi Onoe, Takahisa Suzuki, Daiki Taniyama, Kazuya Kuraoka, Kiwamu Akagi, Wataru Shimizu, Masato Kojima, Kohei Ishiyama, Haruki Sada, Hirotaka Tashiro

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Case Report, DNA Mismatch Repair, Metastasis, 0302 clinical medicine, PMS2, Genetics (clinical), Brain Neoplasms, Liver Neoplasms, Middle Aged, Lynch syndrome, Pedigree, DNA-Binding Proteins, medicine.anatomical_structure, Mismatch repair gene, 030220 oncology & carcinogenesis, Colonic Neoplasms, Adenocarcinoma, Female, Colorectal Neoplasms, Adult, lcsh:Internal medicine, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, MLH1, Descending colon, Frameshift mutation, 03 medical and health sciences, Neoplastic Syndromes, Hereditary, Genetics, medicine, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Turcot’s syndrome type 1, Base Sequence, business.industry, Somatic mutation, nutritional and metabolic diseases, Cancer, medicine.disease, digestive system diseases, lcsh:Genetics, 030104 developmental biology, Mutation, Cancer research, Microsatellite instability, business, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338da9bc7b140d1695c5d7ac724c0369Test
http://europepmc.org/articles/PMC7345515Test

المؤلفون: Greta Morkunaite, Loresa Kriauciuniene, Rasa Liutkeviciene, Brigita Glebauskiene, Alvita Vilkeviciute

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Genetics
BMC medical genetics, London : BioMed Central, 2019, vol. 20, no. 1, 185, p. 1-7

مصطلحات موضوعية: Adenoma, Adult, Male, 0301 basic medicine, lcsh:Internal medicine, medicine.medical_specialty, Genotype, lcsh:QH426-470, Pituitary neoplasm, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Sirtuin 1, Recurrence, Pituitary adenoma, Internal medicine, Genetics, medicine, Humans, Neoplasm Invasiveness, Pituitary Neoplasms, Allele, lcsh:RC31-1245, 616.432-006.55 [udc], Genotyping, Alleles, Genetics (clinical), Aged, rs3740051) gene polymorphisms, business.industry, Haplotype, Pituitary neoplasms, genetics, Polymorphism, genetic, Middle Aged, medicine.disease, Invasiveness, Pituitary Hormones, lcsh:Genetics, 030104 developmental biology, Case-Control Studies, 030220 oncology & carcinogenesis, SIRT1 (rs4746720, Female, business, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd94f46dc223c760d23c524e643958aTest
https://doi.org/10.1186/s12881-019-0892-xTest

المؤلفون: Hossein Fahimi, Sadaf Noavar, Farshid Parvini, Majid Foroutan, Samira Behroozi, Taraneh Tatarcheh

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Case Report, Iran, 030105 genetics & heredity, Connexins, Exon, SLC29A3, Medicine, Frameshift Mutation, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, biology, Homozygote, Exons, Middle Aged, Pedigree, Connexin 26, Mutation (genetic algorithm), symbols, Female, GJB6, Adult, lcsh:Internal medicine, Contracture, lcsh:QH426-470, Hearing Loss, Sensorineural, Genetic counseling, Nucleoside Transport Proteins, Frameshift mutation, SLC29A3-disorder, 03 medical and health sciences, symbols.namesake, Connexin 30, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic Association Studies, Base Sequence, business.industry, Frame-shift mutation, lcsh:Genetics, Diabetes Mellitus, Type 1, 030104 developmental biology, biology.protein, business, Histiocytosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dac48df1685abb1d0dcd7dcc3b78738Test
https://doi.org/10.1186/s12881-019-0879-7Test

المؤلفون: Soo Kyung Koo, Hae Mi Woo, Bo Young Kim, Ji Hoon Kim, Mi Hyun Park, Hyung Jin Choi, Hye Yeong Jo

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Pancreatic Insulinoma, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Clinical genomics, lcsh:Internal medicine, endocrine system diseases, lcsh:QH426-470, Biology, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Proto-Oncogene Proteins, Case report, Genetics, medicine, Humans, MEN1, Exome, Genetic Testing, Multiple endocrine neoplasia, lcsh:RC31-1245, Genetics (clinical), Exome sequencing, Germ-Line Mutation, Parathyroid neoplasm, Somatic mutation, Genetic analysis, High-Throughput Nucleotide Sequencing, medicine.disease, Pedigree, Pancreatic Neoplasms, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Parathyroid Neoplasms, 030220 oncology & carcinogenesis, Whole-exome sequencing, Multiple endocrine neoplasia type 1, Cancer research, Insulinoma, Pancreas

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939ede15cdeb83d892bdd7249381ea20Test
http://link.springer.com/article/10.1186/s12881-017-0465-9Test