Results 121 to 130 of about 17,178 (225)
Ocular sequelae from the illicit use of class A drugs [PDF]
, 2004 Aim: To highlight the changes that may take place in the visual system of the class A drug abuser. Methods: A literature review was carried out of ocular/visual sequelae of the more common class A drugs.
Firth, A.Y.
core
A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure
Molecular Genetics and Metabolism ReportsSLC44A1 gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline ...
Dogan Barut +5 more
doaj +1 more source
, 2017 Autonomous surgery involves having surgical tasks performed by a robot operating under its own will, with partial or no human involvement. There are several important advantages of automation in surgery, which include increasing precision of care due to ...
Das, Nikhil, Yip, Michael
core +1 more source
JCI InsightDominant missense mutations in MYBPC1, the gene encoding the essential sarcomeric slow Myosin Binding Protein-C (sMyBP-C), are associated with Myotrem, a new, early-onset congenital myopathy characterized by muscle weakness, hypotonia, skeletal ...
Jennifer M. Mariano +6 more
doaj +1 more source
No evidence of spread of Linda pestivirus in the wild boar population in Southern Germany
Virology JournalLateral-shaking inducing neuro-degenerative agent virus (LindaV) is a novel member of the highly diverse genus Pestivirus within the family Flaviviridae.
Doreen Schulz +3 more
doaj +1 more source
Virology JournalBackground Atypical porcine pestivirus (APPV) is a newly discovered swine pestivirus, which can cause congenital tremor and high mortality in newborn piglets and subclinical infection in adult pigs, leading to significant impacts on the pig industry ...
Hao Song +8 more
doaj +1 more source
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]
, 2019 Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony +29 more
core +1 more source
Yeni bir TSH reseptör aktive edici mutasyon ile ilişkili ailevi hipertiroidi: Beş vaka takdimi [PDF]
, 2015 Familial non-autoimmune hyperthyroidism, a rare disorder that results from activating germline mutations in the TSH receptor gene, is inherited in an autosomal dominant fashion and has a variable age at onset.
Demir, K. (Korcan) +3 more
core
Detection of atypical porcine pestivirus genome in newborn piglets affected by congenital tremor and high preweaning mortality1. [PDF]
J Anim Sci, 2019 Sutton KM +7 more
europepmc +1 more source