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Year | Number of Results |
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2020 | 1 |
2021 | 3 |
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2024 | 3 |
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Page 1
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16.
Hepatology. 2024.
PMID: 37976411
Free PMC article.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F.
Reijnders MRF, et al. Among authors: mayerhanser k.
Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11.
Genet Med. 2023.
PMID: 37057673
Free article.
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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M.
Brunet T, et al. Among authors: mayerhanser k.
Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11.
Genet Med. 2021.
PMID: 33173220
Free PMC article.
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De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T, Jech R, Brugger M, Kovacs R, Alhaddad B, Leszinski G, Riedhammer KM, Westphal DS, Mahle I, Mayerhanser K, Skorvanek M, Weber S, Graf E, Berutti R, Necpál J, Havránková P, Pavelekova P, Hempel M, Kotzaeridou U, Hoffmann GF, Leiz S, Makowski C, Roser T, Schroeder SA, Steinfeld R, Strobl-Wildemann G, Hoefele J, Borggraefe I, Distelmaier F, Strom TM, Winkelmann J, Meitinger T, Zech M, Wagner M.
Brunet T, et al. Among authors: mayerhanser k.
Clin Genet. 2021 Jul;100(1):14-28. doi: 10.1111/cge.13946. Epub 2021 Mar 1.
Clin Genet. 2021.
PMID: 33619735
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Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Jacob M, Brugger M, Andres S, Wagner M, Graf E, Berutti R, Tilch E, Pavlov M, Mayerhanser K, Hoefele J, Meitinger T, Winkelmann J, Brunet T.
Jacob M, et al. Among authors: mayerhanser k.
Neuropediatrics. 2024 Mar 28. doi: 10.1055/s-0044-1782680. Online ahead of print.
Neuropediatrics. 2024.
PMID: 38547905
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Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M, Wagner M, Zulehner G, Weng R, Jäger F, Keritam O, Sener M, Brücke C, Milenkovic I, Langer A, Buchinger D, Habersam R, Mayerhanser K, Brugger M, Brunet T, Jacob M, Graf E, Berutti R, Cetin H, Hoefele J, Winkelmann J, Zimprich F, Rath J.
Krenn M, et al. Among authors: mayerhanser k.
J Neurol. 2024 Apr;271(4):1937-1946. doi: 10.1007/s00415-023-12101-6. Epub 2023 Dec 21.
J Neurol. 2024.
PMID: 38127101
Free PMC article.
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Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop.
Schwaninger G, Heidemann S, Hofmann W, Maurer T, Mayerhanser K, Ronez J, Schüler H, Steinmüller K, Rudnik-Schöneborn S, Zschocke J.
Schwaninger G, et al. Among authors: mayerhanser k.
Med Genet. 2021 May 14;33(1):35-44. doi: 10.1515/medgen-2021-2055. eCollection 2021 Apr.
Med Genet. 2021.
PMID: 38836206
Free PMC article.
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