Zobrazeno 1 - 10
of 18
pro vyhledávání: '"P D Turnpenny"'
Autor:
Reham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, David J. Evans, Joseph S. Leslie, Thomas T. Warner, Fida’ Al-Hijawi, Shurouq Alshaer, Wisam Baker, Peter D. Turnpenny, Emma L. Baple, Andrew H. Crosby
Publikováno v:
Brain Sciences, Vol 11, Iss 5, p 614 (2021)
The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as ‘pure’ when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and ‘complex’ when
Externí odkaz:
https://doaj.org/article/37bd44b626664bec9e12cde93e3cf1c1
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 2, Iss 5, Pp 542-543 (2016)
Externí odkaz:
https://doaj.org/article/3f4e3be4e2944e02b5559610e3dd518f
Publikováno v:
Developmental Medicine & Child Neurology. 47:551-555
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b05a687388a7e862d1df626dd9e0e87
https://doi.org/10.1111/j.1469-8749.2005.tb01190.x
https://doi.org/10.1111/j.1469-8749.2005.tb01190.x
Publikováno v:
BJOG: An International Journal of Obstetrics and Gynaecology. 99:920-930
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::569e44dabfab202b9d5cc1360e0ea7c5
https://doi.org/10.1111/j.1471-0528.1992.tb14443.x
https://doi.org/10.1111/j.1471-0528.1992.tb14443.x
Publikováno v:
European Journal of Pediatrics. 151:550-554
The aetiology of non-iatrogenic causes of peripheral ischaemia and gangrene presenting either at birth or within a few hours of delivery is unknown in the majority of 56 confirmed cases. In this review of 47 cases occurring since 1941 the aetiology w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab2397ec52930a10d4f1a3d0fe57ba2
https://doi.org/10.1007/bf01957717
https://doi.org/10.1007/bf01957717
Publikováno v:
Journal of Medical Genetics. 28:27-33
Seven members of a large inbred kindred with autosomal recessive spondylocostal dysostosis were examined clinically, radiographically, and sonographically. The subjects were three adults, one adolescent, and three children under 3 years of age. One c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::259e5db930a1a2864b355418a47750b0
https://doi.org/10.1136/jmg.28.1.27
https://doi.org/10.1136/jmg.28.1.27
Publikováno v:
Clinical genetics. 66(1)
Spondylocostal dysostoses (SCD) are a heterogeneous group of disorders of axial skeletal malformation characterized by multiple vertebral segmentation defects and rib anomalies. Sporadic cases with diverse phenotypes, sometimes including multiple org
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::201d816438fdbb8e717b5f95eead95c3
https://pubmed.ncbi.nlm.nih.gov/15200511
https://pubmed.ncbi.nlm.nih.gov/15200511
Publikováno v:
ASDC journal of dentistry for children. 67(4)
A case is presented of a child with remarkably trifid (vertically divided into three) permanent central incisor teeth and multiple systemic findings that do not appear to correspond to any previous diagnosis. Systems affected include skin, musculoske
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da93fc649c288916d9e8d53247c73d23
https://pubmed.ncbi.nlm.nih.gov/10997246
https://pubmed.ncbi.nlm.nih.gov/10997246
Publikováno v:
Clinical dysmorphology. 2(1)
We describe three cases of prenatal infantile cortical hyperostosis (Caffey's disease) from two families, all associated with maternal polyhydramnios. Case 1 (family 1) was an early early neonatal death after delivery at 27 weeks gestation, case 2 (f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c5f87545ba149a991b7e4e78c5cceb33
https://pubmed.ncbi.nlm.nih.gov/8298744
https://pubmed.ncbi.nlm.nih.gov/8298744