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المصدر: J Assist Reprod Genet
مصطلحات موضوعية: Adult, 0301 basic medicine, endocrine system, Genotype, Single-nucleotide polymorphism, Fertilization in Vitro, Controlled ovarian hyperstimulation, Biology, Polymorphism, Single Nucleotide, Andrology, Ovarian Hyperstimulation Syndrome, 03 medical and health sciences, 0302 clinical medicine, Ovulation Induction, Plasminogen Activator Inhibitor 1, Genetic variation, Genetics, Genetic predisposition, Humans, Genetic Predisposition to Disease, Allele, Ovarian Reserve, Methylenetetrahydrofolate Reductase (NADPH2), Genetics (clinical), 030219 obstetrics & reproductive medicine, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Obstetrics and Gynecology, General Medicine, Receptors, LH, Minor allele frequency, 030104 developmental biology, Reproductive Medicine, Methylenetetrahydrofolate reductase, biology.protein, Female, RNA, Long Noncoding, Infertility, Female, Gonadotropins, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aca5d8d47512bb3f81e8596fe68bcea0Test
https://doi.org/10.1007/s10815-021-02242-wTest -
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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 Geneticsمصطلحات 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 -
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المؤلفون: Kiyomi Matsumiya, Teruaki Iwamoto, Akira Tsujimura, Kiyoshi Komatsu, E. Koh, Jiro Kanaya, Mikio Namiki, Atsushi Tajima, Jiro Eguchi, Chise Hasegawa, Miki Yoshiike, Youichi Sato, Naoki Itoh, Aiko Yamauchi, Shiari Nozawa
المصدر: Journal of Assisted Reproduction and Genetics. 35:257-263
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Infertility, Linkage disequilibrium, Population, Immunoglobulins, Single-nucleotide polymorphism, Biology, urologic and male genital diseases, Polymorphism, Single Nucleotide, Male infertility, Andrology, Double plant homeodomain fingers, 03 medical and health sciences, Asian People, Gene Frequency, Tumor suppressor candidate 1, Genetics, medicine, Humans, SNP, Genetic Predisposition to Disease, Oligozoospermia, Family 3, education, Infertility, Male, Genetics (clinical), Azoospermia, Genetic association, education.field_of_study, Tumor Suppressor Proteins, Membrane Proteins, Obstetrics and Gynecology, Oligospermia, General Medicine, medicine.disease, Single nucleotide polymorphism, DNA-Binding Proteins, Logistic Models, 030104 developmental biology, Reproductive Medicine, Case-Control Studies, Transcription Factors, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29014a47189bb78c028b84d800ad475eTest
https://doi.org/10.1007/s10815-017-1052-xTest -
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المؤلفون: Amein Al Ali, Zhara Al Ali, Sadananda Acharya, Chittibabu Vatte, Cyril Cyrus, Shahanas Chathoth, Khandaker Ahtesham Ahmed, Mona H Ismail, Aisha Mohammed Al Barqi
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)مصطلحات موضوعية: Male, 0301 basic medicine, Gene Expression, Type 2 diabetes, Severity of Illness Index, Body Mass Index, Exon, 0302 clinical medicine, Gene Frequency, Polymorphism (computer science), Genotype, Uncoupling Protein 1, Genetics (clinical), education.field_of_study, Membrane Glycoproteins, Diabetes, Intracellular Signaling Peptides and Proteins, NCP1, Middle Aged, Cholesterol, Cohort, Female, Research Article, Adult, Risk, lcsh:Internal medicine, UCP1, medicine.medical_specialty, lcsh:QH426-470, HDL, Population, Saudi Arabia, 030209 endocrinology & metabolism, LDL, 03 medical and health sciences, Niemann-Pick C1 Protein, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Obesity, lcsh:RC31-1245, education, Alleles, Triglycerides, Polymorphism, Genetic, Cholesterol, HDL, Case-control study, Moderate-obese, Extreme-obese, Cholesterol, LDL, Metabolic disorder, medicine.disease, lcsh:Genetics, 030104 developmental biology, Endocrinology, Diabetes Mellitus, Type 2, Case-Control Studies, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d6331c93f30486fefd131d94868635Test
https://doi.org/10.1186/s12881-018-0715-5Test -
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المؤلفون: Eric P. Bergh, Richard T. Scott, Jason M. Franasiak, A. Lonczak, George Patounakis, Xin Tao, Nathan R. Treff, Eric J. Forman
المصدر: Journal of Assisted Reproduction and Genetics. 33:67-73
مصطلحات موضوعية: Adult, 0301 basic medicine, Infertility, medicine.medical_specialty, medicine.medical_treatment, Population, Fertilization in Vitro, Thrombophilia, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Plasminogen Activator Inhibitor 1, Genetics, medicine, Humans, Positive Pregnancy Test, Antigens, Human Platelet, Genetic Predisposition to Disease, Embryo Implantation, education, Prospective cohort study, Methylenetetrahydrofolate Reductase (NADPH2), Genetics (clinical), education.field_of_study, 030219 obstetrics & reproductive medicine, In vitro fertilisation, Factor XIII, Obstetrics, business.industry, Pregnancy Outcome, Factor V, Fibrinogen, Obstetrics and Gynecology, General Medicine, medicine.disease, Surgery, 030104 developmental biology, Reproductive Medicine, Mutation, Female, Prothrombin, business, Live birth, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2974335906d87cd50a90474f068e2e9Test
https://doi.org/10.1007/s10815-015-0606-zTest -
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المؤلفون: Jasmine N. Khouja, Carolina Bonilla, Sarah J Lewis
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
Khouja, J, Lewis, S & Bonilla, C 2018, ' Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood ', BMC Medical Genetics, vol. 19, no. 1, 62 . https://doi.org/10.1186/s12881-018-0575-zTest, https://doi.org/10.1186/s12881-018-0575-zTestمصطلحات موضوعية: Male, Longitudinal study, Receptors, Opioid, mu, Vesicular Transport Proteins, Logistic regression, Health Risk Behaviors, 030207 dermatology & venereal diseases, 0302 clinical medicine, Genotype, Longitudinal Studies, Prospective Studies, Child, Genetics (clinical), Principal Component Analysis, Aldehyde Dehydrogenase, Mitochondrial, ALSPAC, 030220 oncology & carcinogenesis, Sunlight, symbols, Tanning dependence, Female, medicine.symptom, Research Article, Adult, lcsh:Internal medicine, lcsh:QH426-470, SNPs/single nucleotide polymorphisms, Offspring, Genotypes, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Aldehyde Dehydrogenase 1 Family, 03 medical and health sciences, symbols.namesake, Genetics, medicine, Humans, SNP, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic Association Studies, business.industry, Maternal, Aldehyde Dehydrogenase, lcsh:Genetics, Bonferroni correction, Tanning dependenceMaternal, business, Sunscreening Agents, Demography
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a639d2d1c726fa0207abd0ed067866eTest
https://doi.org/10.1186/s12881-018-0575-zTest -
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المصدر: Familial Cancer, 12, 675-82
Familial Cancer, 12, 4, pp. 675-82مصطلحات موضوعية: Adult, Male, Heterozygote, Cancer Research, Coping (psychology), Pediatrics, medicine.medical_specialty, Adolescent, Genetic counseling, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Decision Making, Genes, BRCA2, Genes, BRCA1, Genetic Counseling, Decisional conflict, Quality of Care [ONCOL 4], Young Adult, Neoplastic Syndromes, Hereditary, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Young adult, Genetics (clinical), Retrospective Studies, Genetic testing, Hereditary cancer and cancer-related syndromes [ONCOL 1], medicine.diagnostic_test, business.industry, Retrospective cohort study, Regret, Prognosis, medicine.disease, Lynch syndrome, Psychological determinants of chronic illness Quality of Care [NCEBP 8], Survival Rate, DNA Repair Enzymes, Oncology, Mutation, Quality of Life, Female, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40fe23d70100977fe207c01af89d6908Test
https://doi.org/10.1007/s10689-013-9644-9Test -
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المؤلفون: Anne M. van Altena, Lambertus A. Kiemeney, Sandra van Aarle, Joanne A. de Hullu, Nicoline Hoogerbrugge, Leon F.A.G. Massuger
المصدر: Familial Cancer, 11, 343-9
Familial Cancer, 11, 3, pp. 343-9
Familial Cancerمصطلحات موضوعية: Adult, Cancer Research, medicine.medical_specialty, Multivariate analysis, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Breast Neoplasms, Aetiology, screening and detection [ONCOL 5], Carcinoma, Ovarian Epithelial, Logistic regression, Risk Assessment, Medical Records, Translational research [ONCOL 3], Surveys and Questionnaires, Epidemiology, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Genetics(clinical), Neoplasms, Glandular and Epithelial, Family history, Medical History Taking, Genetics (clinical), Netherlands, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Genetic testing, Ovarian Neoplasms, Gynecology, Hereditary cancer and cancer-related syndromes [ONCOL 1], medicine.diagnostic_test, business.industry, Hereditary neoplastic syndromes, Medical record, Age Factors, Middle Aged, Aetiology, screening and detection Immune Regulation [ONCOL 5], Hospitals, Pedigree, Cancer registry, Oncology, Family medicine, Multivariate Analysis, Female, Original Article, business, Risk assessment, Family history taking
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b7ab5dee5876ec36a7e15a08477536Test
https://doi.org/10.1007/s10689-012-9518-6Test -
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المؤلفون: Nicoline Hoogerbrugge, Angèle L.M. Oei, Lotte H. M. Gerritzen, Maaike A.P.C. van Ham, Fokko M. Nagengast, Joanne A. de Hullu, Leon F.A.G. Massuger
المصدر: Familial Cancer, 8, 391-7
Familial Cancer
Familial Cancer, 8, 4, pp. 391-7مصطلحات موضوعية: Adult, Cancer Research, medicine.medical_specialty, Amsterdam criteria, Genetics and epigenetic pathways of disease [NCMLS 6], Biopsy, medicine.medical_treatment, HNPCC, Aetiology, screening and detection [ONCOL 5], Endometrial carcinoma, Article, Endometrial sampling, Atypical hyperplasia, Quality of Care [ONCOL 4], Endosonography, Molecular epidemiology [NCEBP 1], Young Adult, Translational research [ONCOL 3], Ovarian carcinoma, Genetics, medicine, Carcinoma, Humans, Mass Screening, Genetic Predisposition to Disease, Genetics(clinical), Genetics (clinical), Mass screening, Aged, Ovarian Neoplasms, Gynecology, Surveillance, Hysterectomy, Hereditary cancer and cancer-related syndromes [ONCOL 1], medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Endometrial Neoplasms, Oncology, Population Surveillance, Screening, Female, business, Endometrial biopsy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784ca47fb4229cefded65fd37a7f1449Test
https://doi.org/10.1007/s10689-009-9252-xTest -
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المؤلفون: Elham Savadi, Mohammad Reza Sadeghi, Saeed Zarei, Farhad Khosravi, Mahmood Jeddi-Tehrani, Negah Ahmadvand, Zahra Akbarzadeh-Pasha, Amir-Hassan Zarnani
المصدر: Journal of Assisted Reproduction and Genetics. 31:121-124
مصطلحات موضوعية: Adult, Abortion, Habitual, Mutation rate, medicine.medical_specialty, Gene mutation, Thrombophilia, medicine.disease_cause, Gastroenterology, Young Adult, chemistry.chemical_compound, Pregnancy, Internal medicine, Plasminogen Activator Inhibitor 1, Recurrent miscarriage, Genetics, medicine, Humans, Genetic Predisposition to Disease, Embryo Implantation, Genetic Association Studies, Genetics (clinical), Gynecology, Mutation, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Reproductive Medicine, chemistry, Case-Control Studies, Plasminogen activator inhibitor-1, Embryo Loss, Female, Restriction fragment length polymorphism, business, Plasminogen activator, Polymorphism, Restriction Fragment Length, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f24d1e39b39e09205db12463a6a9295Test
https://doi.org/10.1007/s10815-013-0125-8Test