المؤلفون: Bruce K. Young, M. A. Greco, M. Hernanz-Schulman, I. Lustig, F. Marks, V. C. Greenland, Steven C. Horii, Jon R. Snyder, B R Subramanyam, Nancy B. Genieser

المصدر: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 8(1)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Radiological and Ultrasound Technology, business.industry, Dwarfism, Thorax, medicine.disease, Short thorax, Spine, Spondylothoracic dysplasia, Fetal Diseases, In utero, Dysplasia, Pregnancy, Prenatal Diagnosis, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Abnormalities, Multiple, Female, business, Jarcho-Levin syndrome, Dysmorphic facies, Ultrasonography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebc5a285d63463e05d1aeae425ac21dcTest
https://pubmed.ncbi.nlm.nih.gov/2644437Test

المؤلفون: Augusto Morales, Hilda Goldbarg, Marc G. Reyes, Telly M. Barreta, Vivian J. Harris

المصدر: Journal of child neurology. 4(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Nerve root, 03 medical and health sciences, 0302 clinical medicine, X ray computed, 030225 pediatrics, Medicine, Humans, Neural Tube Defects, Jarcho-Levin syndrome, Diastematomyelia, business.industry, Infant, Anatomy, Syndrome, Spinal cord, medicine.disease, Spine, Surgery, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f344ecbf53f47b4af15a631d24578895Test
https://pubmed.ncbi.nlm.nih.gov/2918211Test

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

المؤلفون: John L. Tolmie, Martin J. Whittle, Angus A. M. Gibson, J. M. Connor, Margaret B. McNay

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

المؤلفون: M, Cirstoiu, O, Munteanu, O, Bodean, C, Cirstoiu

المصدر: Scopus-Elsevier
Europe PubMed Central
Journal of Medicine and Life

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Hernia, Diaphragmatic, Male, hemivertebrae, Jarcho-Levin syndrome, Leiomyoma, ultrasound, spondylocostal dysostosis, Ultrasonography, Prenatal, Case Presentation, Fetal Diseases, Perinatal Care, Pregnancy, Prenatal Diagnosis, Humans, Abnormalities, Multiple, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::afa99981921887c94a1a88035aae20e3Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-84891791594&partnerID=MN8TOARSTest

المؤلفون: Stephanie Young, I. Livingstone Uzoaru, Marc G. Reyes

المصدر: Journal of Child Neurology. 4:229-230

مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Arnold chiari, business, Jarcho-Levin syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d96c370e6cc8f58ae97decfe3a01c68bTest
https://doi.org/10.1177/088307388900400318Test

المصدر: Human Molecular Genetics

مصطلحات الفهرس: 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, brain protein, controlled study, disease severity, exome, exome capture, gene mutation, gene sequence, genetic association, genetic identification, haploinsufficiency, human, incidence, loss of function mutation, next generation sequencing, precursor, priority journal, stoploss mutation, transcription initiation, unclassified drug, Contribution to Journal

URL: doi:10.1093/hmg/ddt012
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.