Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jana Sabová"'
Autor:
Jana Sabová, Vincent Jakub
Publikováno v:
Acta Montanistica Slovaca, Vol 10, Iss 2, Pp 103-110 (2005)
2D geodetic points for the geodetic use should be compatible each other. The point compatibility presents the geometric coincidence of the material point of physical mark with the immaterial point given by the point coordinates C=[XY] in a plane syst
Externí odkaz:
https://doaj.org/article/84e5703bbc574d9d9d42bc8a69890d82
Autor:
Dana Šafka Brožková, Vladimír Peřina, Jana Sabová, Jaroslava Paulasová Schwabová, Marcela Krůtová, Jana Neupauerová, Pavel Seeman, Petra Laššuthová, Marie Trkova
Publikováno v:
Journal of human genetics. 62(3)
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in severa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac88c7993f69e76530434f13495f284
https://pubmed.ncbi.nlm.nih.gov/28003645
https://pubmed.ncbi.nlm.nih.gov/28003645
Autor:
Dana Šišková, Jana Sabová, Radim Mazanec, Petra Laššuthová, Petr Vondráček, Pavel Seeman, Jana Haberlová
Publikováno v:
Clinical Genetics. 80:334-345
Charcot-Marie-Tooth (CMT) neuropathy type 4C (CMT4C) is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene. To determine the spectrum of SH3TC2 mutations in the Czech population,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16f5ebf61d4de83d8c40f32485195095
https://doi.org/10.1111/j.1399-0004.2011.01640.x
https://doi.org/10.1111/j.1399-0004.2011.01640.x
Autor:
Radim Mazanec, Pavlína Plevová, Zdeněk Rychlý, Pavel Seeman, Jiří Böhm, Jana Lisoňová, Jana Sabová, Dana T. Brožková, Iva Sakmaryová, Jana Haberlová, Jan Staněk
Publikováno v:
Muscle & Nerve. 44:819-821
We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82bd812b22b9b8982a535f7cf447034c
https://doi.org/10.1002/mus.22189
https://doi.org/10.1002/mus.22189
Autor:
Dana, Brožková, Radim, Mazanec, Zdeněk, Rychlý, Jana, Haberlová, Jiří, Böhm, Jan, Staněk, Pavlína, Plevová, Jana, Lisoňová, Jana, Sabová, Iva, Sakmaryová, Pavel, Seeman
Publikováno v:
Musclenerve. 44(5)
We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 GA, c.320-1 GC, and p.Trp140Stop segregated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e358695cd14824ef14e3dd9da34d1b9
https://pubmed.ncbi.nlm.nih.gov/22006697
https://pubmed.ncbi.nlm.nih.gov/22006697