PI4KA-Related Disorder

Autor: Wolf, NI, Baple, Emma L, Salter, Claire, Uhlig, Holm H., Crosby, Andrew H, Adam, Margaret, Everman, David B., Mirzaa, Ghayda M., Wallace, Stephanie, Gripp, Karen W.

Publikováno v: Wolf, NI, Baple, E L, Salter, C, Uhlig, H H, Crosby, A H, Adam, M, Everman, D B, Mirzaa, G M, Wallace, S & Gripp, K W 2022, ' PI4KA-Related Disorder ', GeneReviews .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10172::6ce6ea460a139a399b53f839bd8b0db8
https://research.vumc.nl/en/publications/d153b014-1db9-442c-a3dc-cebb2aab8bb3

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Autor: Hamilton, Em, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, Ab, Blumkin, L, H-ABC Research Group, Battini, R, Van Berkel CG, Waisfisz, Q, Simons, C, Taft, Rj, Abbink, Te, Wolf, Ni, Van Der Knaap MS

Publikováno v: Brain, 137, 1921-1930. Oxford University Press
Hamilton, E M C, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, A B, Blumkin, L, van Berkel, C G M, Waisfisz, Q, Simons, C, Taft, R J, Abbink, G E M, Wolf, N I & van der Knaap, M S 2014, ' Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation ', Brain, vol. 137, pp. 1921-1930 . https://doi.org/10.1093/brain/awu110

Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef6647507c694811c8414282d539971
https://europepmc.org/articles/PMC4345790/

Simulation of Breathing Patterns and Classification of Sensor Data for the early detection of impending Sudden Infant Death

Autor: Munz Michael, Wolf Nicolas

Publikováno v: Current Directions in Biomedical Engineering, Vol 5, Iss 1, Pp 401-403 (2019)

In this work, a methodology for the classification of breathing patterns in order to prevent sudden infant death (SID) incidents is presented. The basic idea is to classify breathing patterns which might lead to SID prior to an incident. A thorax sen

Externí odkaz: https://doaj.org/article/a3f14faec0114f3bad9f25e11bf3f2db

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