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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 Association of EIF2S3 mutations with mehmo syndrome Author Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Co-authors Škopková Martina SAVBIOMED - Biomedicínske centrum SAV 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 Kolnikova M. Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Borck Guntram Haas Stefan A. Kim Joo-Ran Lotspeich-Cole Leda E. Dever Thomas E. Kalscheuer Vera M. Action APVV-0187-12. Identifikácia nových aspektov monogénových endokrinopatií metódou sekvenovania novej generácie : 2013-2017 : BMC-UEE Source document Genetics of diabetes and its role in precision medicine : 6th EASD - SGGD meeting. P. 95. - Leiden : Leiden University Medical Center, 2017 ; EASD - SGGD meeting Genetics of diabetes and its role in precision medicine Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 article