-
1
المؤلفون: Joe J. Hoo, Michael Oliphant
المصدر: American Journal of Medical Genetics. :80-84
مصطلحات موضوعية: Male, Adolescent, Birth weight, Short stature, Bone and Bones, Brachyolmia, Inheritance Mode, Humans, Medicine, Platyspondyly, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Siblings, Puberty, Anatomy, medicine.disease, Osteochondrodysplasia, Short trunk, Short femoral neck, Radiography, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f469d2c1865c2ea75698898cad5c41fTest
https://doi.org/10.1002/ajmg.a.10875Test -
2
المؤلفون: Jessica Gardner, Peter Beighton
المصدر: American journal of medical genetics. 49(3)
مصطلحات موضوعية: Adult, Male, Dwarfism, Syndrome, Biology, medicine.disease, Osteochondrodysplasia, Autosomal dominant form, Spine, Brachyolmia, Radiography, Scoliosis, Evolutionary biology, medicine, Humans, Platyspondyly, Female, Child, Kyphoscoliosis, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a974b61f26b2d1cedfce62ad2efed583Test
https://pubmed.ncbi.nlm.nih.gov/8209891Test -
3
المؤلفون: Carmen Dwyer, William A. Horton, Leonard O. Langer, Debra L. Collins
المصدر: American journal of medical genetics. 16(2)
مصطلحات موضوعية: Male, Radiography, Dwarfism, Genes, Recessive, Biology, Short stature, Brachyolmia, Ilium, Biopsy, medicine, Humans, Platyspondyly, Growth Plate, Genetics (clinical), Bone Diseases, Developmental, medicine.diagnostic_test, business.industry, Histocytochemistry, Infant, Newborn, Anatomy, medicine.disease, Short trunk, Dysplasia, Female, sense organs, Collagen, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7a4abdb172ea2b63099f030e66eb30Test
https://pubmed.ncbi.nlm.nih.gov/6650565Test -
4
المؤلفون: Ralph S. Lachman, Helen E. Gruber, David L. Rimoin, M. Shohat
المصدر: American journal of medical genetics. 33(2)
مصطلحات موضوعية: Adult, Male, Adolescent, Radiography, Genes, Recessive, Brachyolmia, medicine, Humans, Platyspondyly, Abnormalities, Multiple, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Ossification, Genetic heterogeneity, Anatomy, medicine.disease, Costal cartilage, Pedigree, Falx cerebri, medicine.anatomical_structure, Dysplasia, Child, Preschool, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8760a0dc74a04909cf1131ffdda1b9c7Test
https://pubmed.ncbi.nlm.nih.gov/2669482Test