Zobrazeno 1 - 6
of 6
pro vyhledávání: '"rare findings"'
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 023-028 (2022)
Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanie
Externí odkaz:
https://doaj.org/article/b7cd01c46e9a473bbc850a9d9ddaa0da
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 023-028 (2022)
Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e571b4aec88802ede2b9037ac87202c8
https://doi.org/10.1055/s-0041-1736482
https://doi.org/10.1055/s-0041-1736482
Electroneurography and Advanced Neuroimaging Profile in Pediatric-onset Metachromatic Leukodystrophy
Autor:
Bejoy Thomas, Sruthi S Nair, Soumya Sundaram, Abhinav Raina, Muralidharan Nair, Chinmay Nagesh
Publikováno v:
Journal of Pediatric Neurosciences
Context: Metachromatic leukodystrophy (MLD) is a rare autosomal-recessive disorder characterized by demyelination of central and peripheral nervous system. There is scarcity of literature on the electrophysiological aspects of peripheral nerves and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa98e07048f04e1271a7524988a2ec8c
https://pubmed.ncbi.nlm.nih.gov/31516623
https://pubmed.ncbi.nlm.nih.gov/31516623
Autor:
Mansi, Luigi1 luigi.mansi@unina2.it, Marsiglia, Christian1
Publikováno v:
European Journal of Nuclear Medicine & Molecular Imaging. Nov2012, Vol. 39 Issue 11, p1821-1821. 1p.
Autor:
Kalayci Yigin A; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical School, Istanbul, Turkey., Duz MB; Department of Medical Genetics, Health Sciences University, Haseki Training and Research Hospital, Istanbul, Turkey., Seven M; Department of Medical Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical School, Istanbul, Turkey.
Publikováno v:
Global medical genetics [Glob Med Genet] 2021 Oct 22; Vol. 9 (1), pp. 23-28. Date of Electronic Publication: 2021 Oct 22 (Print Publication: 2022).
Autor:
Raina A; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India., Nair SS; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India., Nagesh C; Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India., Thomas B; Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India., Nair M; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India., Sundaram S; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
Publikováno v:
Journal of pediatric neurosciences [J Pediatr Neurosci] 2019 Apr-Jun; Vol. 14 (2), pp. 70-75.