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1
المؤلفون: Matilde Laura, Michela Morbin, Davide Pareyson, Michela Ripolone, M Milani, Stefano Jann, Vidmer Scaioli, Maurizio Moggio, Franco Taroni
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neuromuscular disease, Genotype, Biopsy, DNA Mutational Analysis, Short Report, Mutation, Missense, Late onset, Biology, Gene mutation, medicine.disease_cause, Nerve Fibers, Myelinated, Exon, Sural Nerve, Compact myelin, Charcot-Marie-Tooth Disease, medicine, Diseases in Twins, Missense mutation, Humans, Genetic Testing, Aged, Genes, Dominant, Chromosome Aberrations, Neurologic Examination, Mutation, Myelin protein zero, Genetic Carrier Screening, Exons, Middle Aged, medicine.disease, Axons, Psychiatry and Mental health, Microscopy, Electron, Phenotype, Chromosomes, Human, Pair 1, Surgery, Female, Neurology (clinical), Neuroscience, Myelin P0 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83615c9014c7a8d8bf93ad7b45c6ef3aTest
https://europepmc.org/articles/PMC2117588Test/ -
2
المؤلفون: Ying Yue, Bärbel Grossmann, Daniela T. Pilz, C. White, Thomas Haaf, K. Stout, Anja Brinckmann, Ulrich Zechner
مصطلحات موضوعية: Male, medicine.medical_specialty, Developmental Disabilities, Molecular Sequence Data, Short Report, Biology, Infections, Translocation, Genetic, Fusion gene, Exon, Mice, Molecular genetics, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Child, Gene, Genetics (clinical), Genome, Human, Gene Expression Profiling, Breakpoint, Chromosome Mapping, Membrane Proteins, Chromosome Breakage, Exons, Null allele, Molecular biology, Gene expression profiling, Chromosomes, Human, Pair 1, Child, Preschool, Cytogenetic Analysis, Chromosomes, Human, Pair 6, Chromosome breakage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e1a7daa004d165baa7d6cfda673f92Test
https://europepmc.org/articles/PMC2564632Test/ -
3
المؤلفون: N Metheny, M Ter-Minassian, Donato Calista, Alisa M. Goldstein, Ron Agatep, R Steighner, William S. Modi, S Tsang, David W. Hogg, David J. Munroe, Maria Teresa Landi, B Staats, Michael Dean
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, Models, Molecular, Skin Neoplasms, Genetic Linkage, Population, Genes, BRCA2, Cell Cycle Proteins, Biology, Genetic linkage, CDKN2A, Proto-Oncogene Proteins, Tumor Suppressor Protein p14ARF, Genetics, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, education, Melanoma, Genetics (clinical), Cyclin-Dependent Kinase Inhibitor p16, Aged, Cyclin-Dependent Kinase Inhibitor p15, Aged, 80 and over, education.field_of_study, Tumor Suppressor Proteins, Cancer, Cyclin-Dependent Kinase 4, Middle Aged, medicine.disease, Cadherins, Cyclin-Dependent Kinases, Pedigree, Amino Acid Substitution, Italy, Chromosomes, Human, Pair 1, Population study, Female, Skin cancer, Chromosomes, Human, Pair 9, Letter to JMG, Genes, Neoplasm
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6071fffd6e130e1c39f08a78790a631cTest
https://europepmc.org/articles/PMC1735833Test/ -
4
المؤلفون: Johanna Schleutker, Julie M. Cunningham, Annika Rökman, Tarja Ikonen, D J Schaid, Mika P. Matikainen, Rainer Lehtonen, S. N. Thibodeau, Nina N. Nupponen, Auli Karhu, Lauri A. Aaltonen, O. P. Kallioniemi, Maija Ht Kiuru
مصطلحات موضوعية: Male, Somatic cell, DNA Mutational Analysis, Biology, medicine.disease_cause, Electronic Letter, Germline, Fumarate Hydratase, Germline mutation, Leiomyomatosis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Chromatography, High Pressure Liquid, Mutation, Papillary renal cell carcinomas, Chromosome, Prostatic Neoplasms, DNA, Neoplasm, Chromosomes, Human, Pair 1, Fumarase, Cancer research, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b507640998fc8b77c178fa7e39a577a1Test
https://europepmc.org/articles/PMC1735396Test/ -
5
المؤلفون: Li Na Shao, Qiong Huang, Maode Lai
مصطلحات موضوعية: Adult, Male, Transcriptional Activation, Pathology, medicine.medical_specialty, Antimetabolites, Antineoplastic, Adolescent, DNA Repair, DNA repair, Colorectal cancer, DNA damage, Gene Expression, Mutagen, Chromatids, medicine.disease_cause, Bleomycin, chemistry.chemical_compound, Breast cancer, Sex Factors, medicine, Odds Ratio, Humans, Aged, Aged, 80 and over, Chromosomes, Human, Pair 14, Analysis of Variance, business.industry, Mutagenicity Tests, Age Factors, Cancer, General Medicine, Original Articles, Middle Aged, medicine.disease, Genes, p53, chemistry, Chromosomes, Human, Pair 1, Case-Control Studies, Cancer research, Chromosomes, Human, Pair 5, Chromatid, Female, business, Colorectal Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbeb42ac7fa874dffa3c9666b021f4feTest
https://europepmc.org/articles/PMC1742176Test/ -
6
المؤلفون: Richard C. Trembath, M Ameen, A B Jones, N Balendran, A D Burden, D Tillman, Colin Veal, S Mason, Stephen H. Powis, Jonathan Barker, R L Clough, Berne Ferry, Robert Barber
مصطلحات موضوعية: Male, Linkage disequilibrium, Genotype, Locus (genetics), Biology, Genome, Genetic determinism, Gene mapping, Genetics, Genetic predisposition, Humans, Psoriasis, Family, Genetic Predisposition to Disease, Age of Onset, Genetics (clinical), Chromosome 7 (human), Family Health, Chromosome Mapping, Epistasis, Genetic, Original Articles, DNA, Chromosomes, Human, Pair 1, Epistasis, Chromosomes, Human, Pair 6, Female, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4d06f26faa784df46dfb7b3f3c9e0fTest
https://europepmc.org/articles/PMC1734710Test/ -
7
المؤلفون: S. Q. Mehdi, Alan C. Bird, David P. Siderovski, Guillermo Antiñolo, B. E. Snow, S. S. Bhattacharya, David A.R. Bessant, Annette M. Payne
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, Candidate gene, genetic structures, Genetic Linkage, DNA Mutational Analysis, Locus (genetics), Genes, Recessive, Heteroduplex Analysis, Biology, Genetic linkage, Retinitis pigmentosa, Genetics, medicine, Humans, Letters to the Editor, Genetics (clinical), X-linked recessive inheritance, Retinal pigment epithelium, Genetic heterogeneity, Proteins, medicine.disease, Molecular biology, eye diseases, Pedigree, medicine.anatomical_structure, RPE65, Chromosomes, Human, Pair 1, Female, RGS Proteins, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::839e0c6769a87769f8b741a06cfac19eTest
https://europepmc.org/articles/PMC1734589Test/ -
8
المؤلفون: TAYEL, S, AL-NAGGAR, R, MURTHY, D, NAGUIB, K, AL-AWADI, S, KARSH, N
مصطلحات موضوعية: Male, Adolescent, Chromosomes, Human, Pair 1, Child, Preschool, Intellectual Disability, Chromosome Inversion, Humans, Infant, Abnormalities, Multiple, Female, Letters to the Editor, Child, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::13af3ac06f2a571139b689f6d3b2d7a3Test
https://europepmc.org/articles/PMC1734370Test/ -
9
المؤلفون: Fagerheim, T, Raeymaekers, P, Merren, J, Mani, K, Jha, G, Baumbach, L, Brox, V, Breines, E, Holdo, B, Holdo, A, Tranebjarg, L
مصطلحات موضوعية: Male, Extracellular Matrix Proteins, Norway, Hearing Loss, Sensorineural, West Indies, Homozygote, Short Report, Syndrome, eye diseases, Pedigree, Chromosomes, Human, Pair 1, otorhinolaryngologic diseases, Humans, Female, Lod Score, Retinitis Pigmentosa, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2f0d44402169869f3316da8539aed904Test
https://europepmc.org/articles/PMC1734290Test/ -
10
المؤلفون: J. Y. Khan, H. P. Roper, C. Moss
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Chromosomal translocation, Chromosome Disorders, Aplasia cutis congenita, Translocation, Genetic, hemic and lymphatic diseases, Chromosomal Abnormality, Medicine, Humans, Chromosome Aberrations, Chromosomes, Human, Pair 12, Small for dates, business.industry, Infant, Newborn, Obstetrics and Gynecology, Chromosome, Karyotype, General Medicine, Anatomy, Chromosomes, Human, Pair 1, Pediatrics, Perinatology and Child Health, Infant, Small for Gestational Age, Skin Abnormalities, medicine.symptom, Abnormality, business, Infant, Premature, Aplasia cutis, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68518d7ff219a258b8f2957c631e7faeTest
https://europepmc.org/articles/PMC2528456Test/