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Title EIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO Author Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Co-authors Hennig Friederike Shin Byung-Sik Turner Clesson E. Staníková Daniela 1984 SAVBIOMED - Biomedicínske centrum SAV Brennerová Katarína Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Fischer Ute Henden Lyndal Muller Ulrich Steinberger Daniela Leshinsky-Silver Esther Bottani Armand Kurdiová Timea SAVBIOMED - Biomedicínske centrum SAV Ukropec Jozef SAVBIOMED - Biomedicínske centrum SAV Nyitrayova Olga Kolníková Miriam Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Borck Guntram Bahlo Melanie Haas Stefan A. Kim Joo-Ran Lotspeich-Cole Leda E. Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Dever Thomas E. Kalscheuer Vera M. Action TRANSENDOGEN. ITMS 26240220051 APVV-0187-12. Identifikácia nových aspektov monogénových endokrinopatií metódou sekvenovania novej generácie : 2013-2017 : BMC-UEE VEGA 2/0166/14 : UEE Source document Human Mutation. Vol. 38, no. 4 (2017) p. 409-425 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2017 DOI 10.1002/humu.23170 File name Access Size Downloaded Type License EIF2S3 mutations associated with severe X-Linked intellectual disability syndrome MEHMO.pdf Neprístupný/archív 2.2 MB 3 Author's preprint 
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Title Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay Author Grey W. Co-authors Izatt L. Sahraoui W. Yiu-Ming N.G. Ogilvie C. Hulse A. Tse E. Holič Roman 1979- SAVBIOGE - Ústav biochémie a genetiky živočíchov SAV Yu V. Source document Human Mutation. Vol. 34, no. 6 (2013), p. 864-868 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2013 DOI 10.1002/humu.22314 article
Title Molecular Characterization of 22 Novel UDP-N-Acetylglucosamine-1-Phosphate Transferase alfa- and beta- Subunit (GNTPAB) Gene Mutations Causing Mucolipidosis Types II alfa/beta and III alfa/beta in 46 Patients. [elektronický zdroj] Author Tappino Barbara Co-authors Chuzhanova Nadia A. Regis Stefano Dardis Andrea Corsolini Fabio Stroppiano Marina Tonoli Emmanuel Beccari Tomasso Mucha Ján 1952- SAVCHEM - Chemický ústav SAV Blanco Mariana Szlago Marina Di Rocco Maja Cooper David N. Filocamo Mirella Source document Human Mutation. Vol. 30 (2009), E956-E973 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2009 DOI 10.1002/humu.21099 article
Title RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference Author Etzler J. Co-authors Peyrl A. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Schildhaus H.U. Ficek Andrej SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Merkelbach-Bruse S. Kratz C.P. Attarbaschi A. Haifellner J.A. Yao S. Messiaen L. Slavc I. Wimmer K. Source document Human Mutation. Vol.29, Isuue 2 (2008), p. 299-305 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2008 DOI 10.1002/humu.20657 article
Title Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 Author Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Co-authors Messiaen L. Vandenbroucke I Wieser R. Fonatsch C. Krainer A.R. Wimmer Katherine Source document Human Mutation. Vol. 24, iss. 6 (2004), p.491-501 Category ADMB - Scientific papers in foreign non-impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2004 DOI 10.1002/humu.20103 article
Title Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia Author Bartošová Zdena 1963- SAVEXONK - Ústav experimentálnej onkológie SAV Co-authors Fridrichová Ivana 1958- SAVEXONK - Ústav experimentálnej onkológie SAV Bujalková Mária 1975- SAVEXONK - Ústav experimentálnej onkológie SAV Wolf Brigitte Ilencikova Denisa Krizan Peter Hlavcak Peter Palaj Julius Lukac Ludovit Lukacova Margita Böör Andrej Haider Ritva Jiricny Josef Nyström-Lahti Minna Marra Giancarlo Source document Human Mutation. Vol. 21, no. 4 (2003), p. 449. - : Wiley-Liss Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2003 article
Title Novel hMLH1 and hMSH2 germline mutations in the HNPCC families identified in Slovakia Author Fridrichová Ivana 1958- SAVEXONK - Ústav experimentálnej onkológie SAV Co-authors Bartošová Zdena 1963- SAVEXONK - Ústav experimentálnej onkológie SAV Bujalková Mária 1975- SAVEXONK - Ústav experimentálnej onkológie SAV Hlavčák Peter Wolf Brigitte Križan Peter Palaj Július Lukáč Ľudovít Lukáčová Margita Böör Andrej Haider Ritva Jiricny Josef Nyström-Lahti Minna Marra Giancarlo Source document Human Mutation. Vol. 21, no. 4 (2003), p. 449-453 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2003 
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