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1
المؤلفون: M. Vasil, Kazimierz Kozlowski, A. Baxova
المصدر: American Journal of Medical Genetics. 70:48-51
مصطلحات موضوعية: Genetic inheritance, business.industry, Nievergelt syndrome, New mutation, medicine, Anatomy, medicine.disease, business, Osteochondrodysplasia, Genetics (clinical), Lower limb, Foot (unit)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::321040b9a0bae2960ab986210df9fcd8Test
https://doi.org/10.1002Test/(sici)1096-8628(19970502)70:1<48::aid-ajmg10>3.0.co;2-x -
2
المؤلفون: Joël Zlotogora
المصدر: American Journal of Medical Genetics. 46:182-184
مصطلحات موضوعية: Male, Neurofibromatosis type I, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Neurofibromatosis 1, Models, Genetic, Mosaicism, Somatic cell, Infant, Newborn, Disease, Biology, medicine.disease, medicine.disease_cause, Somatic mosaicism, Genes, Neurofibromatosis 1, New mutation, medicine, Germinal mosaicism, Humans, Female, Neurofibromatosis, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efaa5e41f73c96ed14f69e6d08421734Test
https://doi.org/10.1002/ajmg.1320460217Test -
3
المؤلفون: Tessa Webb, Dominique Heitz, François Rousseau, J.F. Harvey, James N. Macpherson, Greta Curtis, Patricia A. Jacobs
المصدر: American journal of medical genetics. 43(5)
مصطلحات موضوعية: Genetics, Male, education.field_of_study, Fragile x, Offspring, Population, Biology, Compound heterozygosity, Insert (molecular biology), Fragile X Syndrome, New mutation, Mutation, Humans, Female, education, DNA Probes, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8654de54b9755448d03b230ab10d043Test
https://pubmed.ncbi.nlm.nih.gov/1642285Test -
4
المؤلفون: John P. Dorst, Victor A. McKusick, John M. Opitz, Julie Rotta, James F. Reynolds, Judith G. Hall
المصدر: American journal of medical genetics. 28(1)
مصطلحات موضوعية: Genetics, Male, Mosaicism, Germinal cell, Grandparent, Germline mosaicism, Biology, medicine.disease, Brother, Achondroplasia, Pedigree, Pseudoachondroplasia, Germ Cells, New mutation, medicine, Humans, Female, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a97e9e46932ee77e4d8cf5af6b8dceTest
https://pubmed.ncbi.nlm.nih.gov/3314506Test -
5
المصدر: American journal of medical genetics. 21(4)
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, business.industry, Infant, Newborn, Apert syndrome, Anatomy, Acrocephalosyndactylia, medicine.disease, Encephalocele, Radiography, New mutation, Medicine, Humans, Female, Family history, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59d9d590ab2d50c6133cf073f29777adTest
https://pubmed.ncbi.nlm.nih.gov/4025404Test -
6
المؤلفون: Connie H. Miller, John M. Opitz, James F. Reynolds, Margaret W. Hilgartner, Louis M. Aledort
المصدر: American Journal of Medical Genetics. 28:519-520
مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Offspring, Genetic counseling, Genetic Counseling, Prenatal diagnosis, Pedigree chart, Hemophilia A, Hemophilia B, Fetoscopy, Pregnancy, Prenatal Diagnosis, medicine, Humans, Family history, Genetics (clinical), Aged, Genetics, medicine.diagnostic_test, Obstetrics, business.industry, Genetic Carrier Screening, Middle Aged, medicine.disease, Family Planning Services, New mutation, Female, business, Social Adjustment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dac72a13b18f776a0e6811f8a65a7599Test
https://doi.org/10.1002/ajmg.1320280235Test -
7
المؤلفون: Paul J. Benke
المصدر: American Journal of Medical Genetics. 34:250-250
مصطلحات موضوعية: Genetics, Mutation, New mutation, Brain, Humans, Syndrome, Biology, Facial Bones, Genetics (clinical), Genes, Dominant, XK aprosencephaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10bb0dfb76c96822eef792f7c4b672e3Test
https://doi.org/10.1002/ajmg.1320340224Test