Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Gabriela Křečková"'
Autor:
Věra Hořínová, Jana Paděrová, Miroslava Balascakova, Marketa Havlovicova, Gabriela Křečková, Jana Pospíšilová, Arpád Boday, Sarka Vejvalkova, Eva Kantorová, Jana Čopíková, Pavel Votýpka, Radka Kremlikova Pourova, Martina Simandlova, Petra Liskova, Jana Štěpánková, Michaela Zelinová, Marek Turnovec, Anna Uhrova Meszarosova, Věra Románková
Publikováno v:
Annals of Human Genetics. 84:380-392
We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next-generation sequencing, 11 different COL2A1 variants (seven novel), were identified in 13 families (19
Autor:
Dana Šafka Brožková, Petra Laššuthová, Jana Neupauerová, Daniel Groh, Simona Poisson Marková, Pavel Seeman, Gabriela Křečková, Anna Uhrova Meszarosova
Publikováno v:
International journal of pediatric otorhinolaryngology. 86
Objectives To evaluate the contribution of eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. Patients and Methods Unrelated Czech patients, adults and children, diagnosed with pre-li
Autor:
Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney diseas
Externí odkaz:
https://doaj.org/article/a61fd3b445844401ac3d8d045e9d77aa