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1
المؤلفون: Xavier Pillois, C Goulas, M Fiore
المصدر: Clinical Genetics. 91:924-926
مصطلحات موضوعية: 0301 basic medicine, Microtubule assembly, 030204 cardiovascular system & hematology, Biology, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Protein structure, Tubulin, Terminal (electronics), Microtubule, New mutation, Gene expression, DNA Mutational Analysis, Genetics, biology.protein, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75c0df14de1125f422b970fc83022f07Test
https://doi.org/10.1111/cge.12879Test -
2
المؤلفون: L Pollack, C T Caskey, R L Nussbaum, L C Cohan
المصدر: Clinical Genetics. 18:329-341
مصطلحات موضوعية: Male, musculoskeletal diseases, Genetics, Heterozygote, Duchenne muscular dystrophy, Sporadic occurrence, Dystrophy, Heterozygote advantage, Biology, Carrier testing, medicine.disease, Chromosomes, Muscular Dystrophies, Pedigree, Mutation, New mutation, Mutation (genetic algorithm), medicine, Humans, Female, Creatine Kinase, Genetics (clinical), Probability, Maternal grandmother
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f31b43aa0023b1b54407b1bfbe1651dTest
https://doi.org/10.1111/j.1399-0004.1980.tb02293.xTest -
3
المؤلفون: Ken L. Takahashi, Shoji Teramoto, Masahiro Kaneda, Hiroaki Aoyama, Sakiko Fujii
المصدر: Clinical Genetics. 43:65-71
مصطلحات موضوعية: Male, Embryology, animal structures, Genotype, Genetic Linkage, Mutant, Mutant gene, Genes, Recessive, Biology, medicine.disease_cause, Hair growth, Species Specificity, Gene duplication, Genetics, medicine, Animals, Allele, Rats, Wistar, Alleles, Crosses, Genetic, Genetics (clinical), Mutation, Homozygote, Normal length, General Medicine, Anatomy, Cheek, Pedigree, Rats, Abdominal hair, Phenotype, medicine.anatomical_structure, Vibrissae, Pediatrics, Perinatology and Child Health, New mutation, Female, sense organs, Developmental Biology, Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef83c6186096fb8181714c86617d5d0Test
https://doi.org/10.1111/j.1399-0004.2003.tb02308.xTest -
4
المؤلفون: RA Stein
المصدر: Clinical Genetics. 68:114-116
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Heart disease, business.industry, medicine.disease, Endocrinology, Internal medicine, New mutation, Mutation (genetic algorithm), medicine, Congenital disease, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::70401f93bb024986eae2439b1ec58ac6Test
https://doi.org/10.1111/j.1399-0004.2005.0479b.xTest -
5
المؤلفون: S Ladha
المصدر: Clinical genetics. 79(5)
مصطلحات موضوعية: Genetics, Seckel syndrome, Genome maintenance, New mutation, medicine, Biology, medicine.disease, Genetics (clinical), Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa7bd81ff72b65d27359c136c89c1eTest
https://pubmed.ncbi.nlm.nih.gov/21131973Test -
6
المؤلفون: C T Caskey, Arthur L. Beaudet
المصدر: Clinical genetics. 13(3)
مصطلحات موضوعية: Genetics, Adult, Male, Heterozygote, Physiology, Heterozygote advantage, Biology, Fabry's disease, Heterozygote Detection, Galactosidases, Pedigree, Hexosaminidases, Hair root, Clinical evidence, alpha-Galactosidase, New mutation, Fabry Disease, Humans, Hexosaminidase, Child, Genetics (clinical), Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c8d01e7fb968cc999e6a310b2bc342Test
https://pubmed.ncbi.nlm.nih.gov/205381Test -
7
المؤلفون: Sonja A. Rasmussen, Jaime L. Frias
المصدر: Clinical genetics. 33(1)
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Acrocephalosyndactylia, Infant, Newborn, Genetic Variation, Biology, medicine.disease, body regions, Variable Expression, Radiography, Expression (architecture), Thumb, New mutation, medicine, Pfeiffer syndrome, Humans, Female, Right thumb, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b09f71aefa311344946ca60a154718Test
https://pubmed.ncbi.nlm.nih.gov/3342547Test