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1
المؤلفون: C. Smulders, J. S. H. Vles, J. P. Fryns, R. O. De Jong, E. Floor
المصدر: Clinical Genetics. 36:236-241
مصطلحات موضوعية: Adult, Male, Genetics, medicine.medical_specialty, Cytogenetics, Ribs, Syndrome, Biology, Autosomal dominant transmission, medicine.disease, Vertebral anomalies, Thoracic Vertebrae, Spondylocostal dysostosis, Pedigree, Radiography, Inheritance (object-oriented programming), Synostosis, medicine, Humans, Abnormalities, Multiple, Female, Jarcho-Levin syndrome, Genetics (clinical), Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fda8b948fc39a3f2dd46c5e388a661bTest
https://doi.org/10.1111/j.1399-0004.1989.tb03196.xTest -
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المؤلفون: Suzanne B. Cassidy, Caroline P. McCall, Robert M. Greenstein, Michelle M. Cloutier, Louanne Hudgins
المصدر: American Journal of Medical Genetics. 49:328-332
مصطلحات موضوعية: Male, Puerto rican, Dwarfism, Genes, Recessive, Multiple vertebral anomalies, medicine, Humans, Abnormalities, Multiple, Child, Lung, Jarcho-Levin syndrome, Genetics (clinical), business.industry, Dysostosis, Syndrome, Anatomy, Prognosis, medicine.disease, Spine, Spondylocostal dysostosis, Respiratory Function Tests, Radiography, medicine.anatomical_structure, Hemivertebrae, business, Vertebral column
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::140c4b0ea39a659387bf22bec748fcf0Test
https://doi.org/10.1002/ajmg.1320490317Test -
3
المصدر: American Journal of Medical Genetics. 107:250-252
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, medicine.disease, business, Pulmonary hypertension, Jarcho-Levin syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6d373f563cfb23fe6cd39e5005ad52edTest
https://doi.org/10.1002/ajmg.10139Test -
4
المؤلفون: Edgar Rupprecht, Peter Lorenz
المصدر: American Journal of Medical Genetics. 35:219-221
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, media_common.quotation_subject, Diagnostico diferencial, Ribs, Thoracic Vertebrae, Diagnosis, Differential, Internal medicine, Humans, Medicine, Jarcho-Levin syndrome, Genetics (clinical), Genes, Dominant, media_common, Daughter, Lumbar Vertebrae, Autosomal recessive inheritance, business.industry, COSTOVERTEBRAL DYSPLASIA, Infant, Newborn, Dysostoses, Anatomy, musculoskeletal system, medicine.disease, Spondylocostal dysostosis, SPONDYLOCOSTAL DYSPLASIA, Radiography, Endocrinology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900bd10d94457f4b64c0ff39f3ea61d1Test
https://doi.org/10.1002/ajmg.1320350215Test -
5
المؤلفون: R M Winter, C E Wallis, P Aurora
المصدر: Clinical dysmorphology. 5(2)
مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Pediatrics, Radiography, Ribs, Pathology and Forensic Medicine, Pregnancy, medicine, Humans, Complex congenital heart disease, Jarcho-Levin syndrome, Genetics (clinical), Rib cage, business.industry, Cesarean Section, Infant, Newborn, General Medicine, Syndrome, medicine.disease, SPONDYLOCOSTAL DYSPLASIA, Spine, Surgery, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Anatomy, business, Respiratory Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e65825ba02b511ba442d8aba85d8a5daTest
https://pubmed.ncbi.nlm.nih.gov/8723567Test -
6
المصدر: Journal of medical genetics. 32(8)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, medicine.medical_specialty, Pediatrics, Heart disease, macromolecular substances, Fetus, Pregnancy, Internal medicine, Genetics, Medicine, Humans, Jarcho-Levin syndrome, Genetics (clinical), business.industry, Dysostoses, Abortion, Induced, medicine.disease, Spondylocostal dysostosis, Endocrinology, SPONDYLOTHORACIC DYSOSTOSIS, Female, Spinal Diseases, Congenital disease, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703bf7d27c32c09da9487504b267d96eTest
https://pubmed.ncbi.nlm.nih.gov/7473656Test -
7
المؤلفون: Mario G. Romeo, Giuseppe Distefano, A. Mangiagli, Florindo Mollica, D. Dt Bella, L. Caltabiano, S. Roccaro
المصدر: Clinical genetics. 39(4)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Early death, Chromosome Disorders, Genes, Recessive, Ribs, Disease, Thoracic Vertebrae, Spinal Osteophytosis, Genetics, Deformity, Medicine, Humans, Abnormalities, Multiple, Kyphosis, Jarcho-Levin syndrome, Genetics (clinical), Chromosome Aberrations, Autosomal recessive inheritance, business.industry, Respiratory disease, Infant, Newborn, Dysostoses, Syndrome, medicine.disease, Spondylocostal dysostosis, Pedigree, Respiratory failure, Cervical Vertebrae, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcc64ad631a4798ac7852385e69df0caTest
https://pubmed.ncbi.nlm.nih.gov/2070546Test -
8
المؤلفون: M Schulman, M T Gonzalez, M R Bye
المصدر: Journal of Medical Genetics. 30:875-876
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Osteochondrodysplasias, Thoracic Vertebrae, Bronchoscopy, Airway abnormalities, Genetics, medicine, Humans, Jarcho-Levin syndrome, Genetics (clinical), medicine.diagnostic_test, business.industry, Respiratory disease, Infant, Newborn, Syndrome, Surgical correction, medicine.disease, Endoscopy, Airway Obstruction, Trachea, medicine.anatomical_structure, Respiratory failure, Female, Respiratory Insufficiency, business, Research Article, Respiratory tract
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afbd4c933866c179f17385a9492f1ccTest
https://doi.org/10.1136/jmg.30.10.875Test -
9
المؤلفون: Anthony C. Casamassima, Thaddeus Kelly, Robin J. Caldwell, Barry Wolf, Walter E. Nance, Cynthia C. Morton, Michael B. Kodroff
المصدر: American journal of medical genetics. 8(1)
مصطلحات موضوعية: Bone Diseases, Developmental, Genitourinary system, business.industry, Genes, Recessive, Anatomy, Syndrome, Vertebral anomalies, medicine.disease, Spondylocostal dysostosis, Spine, Pedigree, Anus, Imperforate, Consanguinity, Anal atresia, Urogenital Abnormalities, Vertebral abnormalities, medicine, Differential diagnosis, Imperforate anus, business, Jarcho-Levin syndrome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c115cc0440fde142002ad843790f654cTest
https://pubmed.ncbi.nlm.nih.gov/7246601Test -
10
المصدر: Prenatal diagnosis. 7(2)
مصطلحات موضوعية: Thorax, Male, medicine.medical_specialty, Pediatrics, Prenatal diagnosis, Short neck, Ribs, Thoracic Diseases, Second trimester, Pregnancy, Prenatal Diagnosis, medicine, Humans, Abnormalities, Multiple, Jarcho-Levin syndrome, Genetics (clinical), Ultrasonography, business.industry, Infant, Newborn, Obstetrics and Gynecology, medicine.disease, Spondylocostal dysostosis, Spine, Surgery, Radiography, Fetal Diseases, Respiratory failure, SPONDYLOTHORACIC DYSOSTOSIS, Pregnancy Trimester, Second, Female, Spinal Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0872e583f019e3683b4284bac3049a66Test
https://pubmed.ncbi.nlm.nih.gov/3554211Test