-
1
المؤلفون: Mahmut Şamil Sağıroğlu, Bayram Yuksel, Safak Gucer, Dilek Yalnizoglu, Rıza Köksal Özgül, Omer F. Gerdan, Ali Dursun, Didem Yücel-Yılmaz, Serap Sivri
المصدر: Clinical Dysmorphology. 26:1-12
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Biopsy, Vesicular Transport Proteins, Gene mutation, urologic and male genital diseases, Bone and Bones, Pathology and Forensic Medicine, 03 medical and health sciences, Fatal Outcome, Lysosomal storage disease, Humans, Medicine, Clinical phenotype, Genetic Association Studies, Genetics (clinical), Proteinuria, business.industry, Siblings, Coarse face, Dysostosis multiplex, Facies, Infant, Syndrome, General Medicine, medicine.disease, Pyramidal signs, Pedigree, Multisystem disease, Lysosomal Storage Diseases, Radiography, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, Tomography, X-Ray Computed, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68ded556bcae7e06faadae1d5946700Test
https://doi.org/10.1097/mcd.0000000000000149Test -
2
المؤلفون: C. R. Staalman, H. D. Bakker
المصدر: Skeletal Radiology. 12:153-161
مصطلحات موضوعية: Rib cage, Time Factors, Adolescent, business.industry, Skull, Dysostosis multiplex, Dysostoses, Anatomy, Radiography, medicine.anatomical_structure, Scoliosis, Mucolipidoses, Mucolipidosis I, Hip Dislocation, Humans, Medicine, Female, Radiology, Nuclear Medicine and imaging, Thickening, business, Pelvis, Vertebral column, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5500fe51c13088bb9ce710bef0410ddTest
https://doi.org/10.1007/bf00361081Test -
3
المؤلفون: Dorothy Wolff
المصدر: The Laryngoscope. 52:218-223
مصطلحات موضوعية: Otorhinolaryngology, business.industry, Dysostosis multiplex, Medicine, Anatomy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8c93d7a2cca6d015158079ce41b36924Test
https://doi.org/10.1288/00005537-194203000-00005Test -
4
المؤلفون: Kenneth R. Magee
المصدر: Archives of neurology and psychiatry. 63(2)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Amaurotic Familial Idiocy, Mucopolysaccharidosis I, Dysostosis multiplex, Hepatosplenomegaly, Anatomy, Lipid storage, Lipochondrodystrophy, Dermatology, Sunken nasal bridge, Meninges, Arts and Humanities (miscellaneous), Medicine, Dorsolumbar kyphosis, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27d3a673521b347b4acf5337f92e6900Test
https://pubmed.ncbi.nlm.nih.gov/15404488Test -
5
المؤلفون: Michael J. Hogan, Frederick C. Cordes
المصدر: Archives of Ophthalmology. 27:637
مصطلحات موضوعية: business.industry, Dysostosis multiplex, Dwarfism, Disease, Anatomy, medicine.disease, medicine.anatomical_structure, Tongue, medicine, Deformity, sense organs, Large head, medicine.symptom, business, Nose, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::61d6446754df9c008255271ac846b55bTest
https://doi.org/10.1001/archopht.1942.00880040013001Test