المؤلفون: A.E. Oestreich

المصدر: Yearbook of Diagnostic Radiology. 2012:143-145

مصطلحات موضوعية: business.industry, SPONDYLOTHORACIC DYSOSTOSIS, Medicine, Anatomy, business, medicine.disease, Jarcho-Levin syndrome, Spondylocostal dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9678ab3a7042f6cd1c4ade63f7c4e9d0Test
https://doi.org/10.1016/j.yrad.2011.07.001Test

المؤلفون: Kansal, Ritesh, Mahore, Amit, Kukreja, Sanjay

المصدر: Journal of Pediatric Neurosciences

مصطلحات موضوعية: Case Report, spondylocostal dysostosis, Costovertebral malformation, diastematomyelia, Jarcho–Levin syndrome, spondylothoracic dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::284e7154a2e9862b055ee82473a2f4e8Test
http://europepmc.org/articles/PMC3296412Test

المؤلفون: Juan Soriano, Marco A Durán, Carbajal-De Nova D, Ernesto Carrera

المصدر: Pediatric Pathology & Molecular Medicine. 20:197-202

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Postmortem studies, business.industry, Genitourinary system, Infant, Newborn, Dysostoses, Syndrome, Anatomy, medicine.disease, Infant newborn, Bone and Bones, Spondylocostal dysostosis, Pathology and Forensic Medicine, Vertebral segmentation defect, SPONDYLOTHORACIC DYSOSTOSIS, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, business, Jarcho-Levin syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4401bdec1554a144ed7a4efce144d5b7Test
https://doi.org/10.1080/15513810109168612Test

المؤلفون: van Aalst, J., Vles, J. S. H., Cuppen, I., Sival, D. A., Niks, E. H., Van Rhijn, L. W., Van Steensel, M. A. M., Cornips, E. M. J.

المصدر: van Aalst , J , Vles , J S H , Cuppen , I , Sival , D A , Niks , E H , Van Rhijn , L W , Van Steensel , M A M & Cornips , E M J 2013 , ' Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine ' , Child's Nervous System , vol. 29 , no. 7 , pp. 1051-1058 . https://doi.org/10.1007/s00381-013-2057-0Test

مصطلحات موضوعية: Spinal dysraphism, Spina bifida, Embryology, Genetics, Spondylocostal dysostosis, Jarcho-Levin syndrome

الإتاحة: https://doi.org/10.1007/s00381-013-2057-0Test
https://cris.maastrichtuniversity.nl/en/publications/56bff919-82c2-4564-a409-536e4309e220Test

المؤلفون: Sparrow, Duncan, McInerney-Leo, Aideen, Gucev, Zoran, Gardiner, Brooke, Marshall, Mhairi, Leo, Paul, Chapman, Deborah, Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew, Duncan, Emma, Dunwoodie, Sally

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Abnormalities, Animal, Animals, Body Patterning, Congenital, DLL3 protein, DNA, Diaphragmatic, Disease Models, Dominant, Genes, HES7 protein, Heart Defects, Hernia, Humans, Jarcho Levin syndrome, LFNG protein, MESP2 protein, Mice, Multiple, Mutation, Pedigree, Sequence Analysis, Somites, T-Box Domain Proteins, TBX6 protein, article, autosomal dominant disorder, autosomal dominant spondylocostal dysostosis, autosomal recessive disorder

العلاقة: Sparrow, Duncan, McInerney-Leo, Aideen, Gucev, Zoran, Gardiner, Brooke, Marshall, Mhairi, Leo, Paul, Chapman, Deborah, Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew, Duncan, Emma, & Dunwoodie, Sally (2013) Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22(8), pp. 1625-1631.; https://eprints.qut.edu.au/89276Test/; Faculty of Health; Institute of Health and Biomedical Innovation

الإتاحة: https://doi.org/10.1093/hmg/ddt012Test
https://eprints.qut.edu.au/89276Test/

المؤلفون: Aalst, J. van, Vles, J.S.H., Cuppen, I., Sival, D.A., Niks, E.H., Rhijn, L.W. van, Steensel, M.A.M. van, Cornips, E.M.J.

المصدر: Child's Nervous System

مصطلحات موضوعية: Spinal dysraphism, Spina bifida, Embryology, Genetics, Spondylocostal dysostosis, Jarcho-Levin syndrome

العلاقة: lumc-id: 3477714; https://hdl.handle.net/1887/100155Test

الإتاحة: https://doi.org/10.1007/s00381-013-2057-0Test
https://hdl.handle.net/1887/100155Test

المؤلفون: G. Wong, Deborah Levine

المصدر: Ultrasound in Obstetrics and Gynecology. 12:70-73

مصطلحات موضوعية: Gynecology, Fetus, medicine.medical_specialty, Pregnancy, Rib cage, Fetal viability, Radiological and Ultrasound Technology, business.industry, Obstetrics, Obstetrics and Gynecology, Gestational age, Puerto rican, Prenatal diagnosis, General Medicine, medicine.disease, Reproductive Medicine, Medicine, Radiology, Nuclear Medicine and imaging, business, Jarcho-Levin syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7975c77a0c09ae213553148ab84e2c5fTest
https://doi.org/10.1046/j.1469-0705.1998.12010070.xTest

المؤلفون: Gozal D, Kahlstrom Ej, Bautista Db

المصدر: Southern Medical Journal. 90:1234-1237

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Body height, Thoracic Vertebrae, Pulmonary function testing, Fatal Outcome, medicine, Humans, Kyphosis, Jarcho-Levin syndrome, business.industry, Respiratory disease, Infant, Newborn, Syndrome, General Medicine, medicine.disease, Body Height, Respiratory Function Tests, Spondylothoracic dysplasia, Surgery, Spinal Fusion, Energy expenditure, Etiology, Female, Energy Metabolism, Respiratory Insufficiency, Complication, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d75a0bd6a40ea30615651d2caf471ef3Test
https://doi.org/10.1097/00007611-199712000-00014Test

المؤلفون: S. Eliyahu, Eliezer Shalev, E. Weiner, D. Lahav

المصدر: Ultrasound in Obstetrics and Gynecology. 9:314-318

مصطلحات موضوعية: Gynecology, Fetus, medicine.medical_specialty, Pregnancy, Radiological and Ultrasound Technology, business.industry, Obstetrics, Ultrasound, Obstetrics and Gynecology, General Medicine, Disease, medicine.disease, Reproductive Medicine, Obstetrics and gynaecology, Gestational Weeks, medicine, Radiology, Nuclear Medicine and imaging, business, Autosomal recessive form, Jarcho-Levin syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::db7b398012ff2af7211b034a688d7892Test
https://doi.org/10.1046/j.1469-0705.1997.09050314.xTest

المؤلفون: Andrea Superti-Furga, Gen Nishimura, Jürgen W. Spranger, Sheila Unger, Paula W. Brill

المصدر: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development

مصطلحات موضوعية: otorhinolaryngologic diseases, Jarcho-Levin syndrome, humanities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5f41b37c9d824a60de062dddf4bf86bcTest
https://doi.org/10.1093/med/9780195396089.003.0164Test