Results 61 to 70 of about 725,420 (187)
Hereditary sensory autonomic neuropathy type VI in the age of genetic testing
Annals of the Child Neurology SocietyBackground Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene.
Lekshmi Peringassery Sateesh +5 more
doaj +1 more source
Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: A case report
Indian Journal of Radiology and Imaging, 2016 Hereditary spastic paraplegia (HSP) is a rare heterogeneous group of familial neurodegenerative disorders characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord.
Sonam Priya +3 more
doaj +1 more source
, 2018 We discover new hereditary classes of graphs that are minimal (with respect to set inclusion) of unbounded clique-width. The new examples include split permutation graphs and bichain graphs.
Atminas, A. +3 more
core
Oncology ReviewsAimThis study aimed to investigate the causes and risk factors of colorectal cancer (CRC) in a Turkish population, focusing on various modifiable and non-modifiable risk factors.MethodsA hospital-based case-control design was employed to compare ...
Abdulbari Bener +8 more
doaj +1 more source
A Family with Palmar and Plantar Hyperkeratosis: A Quiz
Acta Dermato-Venereologica, 2020 is missing (Quiz)
Hazem A. Juratli +5 more
doaj +1 more source
International Journal of Clinical Practice, 1994 SUMMARY Hereditary coproporphyria is a rarely diagnosed disease and is one of the acute porphyrias. The classic mental, neurological and abdominal symptoms are often observed, but there appear to be atypical clinical features and laboratory findings that may lead to underdiagnosis.
openaire +2 more sources
Frontiers in Pediatrics, 2018 Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function.
Jan Halbritter +4 more
doaj +1 more source
Phenotypic diversity and population growth in fluctuating environment: a MBPRE approach
, 2009 Organisms adapt to fluctuating environments by regulating their dynamics, and by adjusting their phenotypes to environmental changes. We model population growth using multitype branching processes in random environments, where the offspring distribution ...
Bansaye, Vincent +2 more
core +2 more sources
Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2016 Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj
A novel mutation in the transthyretin gene in amyloidosis: A cluster case report in Vietnam
Vietnam Journal of Science, Technology and EngineeringTransthyretin amyloidosis (ATTR) is a slowly progressive condition characterised by the abnormal accumulation of a protein called amyloid in the body’s organs and tissues.
Ngoc Lan Thi Nguyen +5 more
doaj +1 more source