Medizinische Universität Graz - Research portal
Schreiner Elisabeth |
** = Publications listed in SCI/SSCI/Pubmed
2024
Full paper/article (Journal)
** Borroto, MC; Patel, H; Srivastava, S; Swanson, LC; Keren, B; Whalen, S; Mignot, C; Wang, X; Chen, Q; Rosenfeld, JA; McLean, S; Littlejohn, RO; Emrick, L; Burrage, LC; Attali, R; Lesca, G; Acquaviva-Bourdain, C; Sarret, C; Seaver, LH; Platzer, K; Bartolomaeus, T; Wünsch, C; Fischer, S; Rodriguez, Barreto, AM; Granadillo, JL; Schreiner, E; Brunet, T; Schatz, UA; Thiffault, I; Mullegama, SV; Michaud, JL; Hamdan, FF; Rossignol, E; Campeau, PM, , Undiagnosed, Diseases, Network
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Pediatr Neurol. 2024; 160: 45-53.
Doi: 10.1016/j.pediatrneurol.2024.07.010
Web of Science
PubMed
FullText
FullText_MUG
Abstract (Journal)
** Blatterer, J; Hammer, S; Bierbaumer, S; Husic, R; Schmid, J; Schreiner, E; Tichy, H; Wagner, K; Verheyen, S
The zebra among horses - COPA syndrome as a potentially underdiagnosed autoimmune disorder
EUR J HUM GENET. 2024; 32: 1035-1035.
[Poster]
Web of Science
FullText
** Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Kuehberger, S; Tichy, H; Wagner, K; Verheyen, S
Phenotype expansion of SAMD9L-associated Ataxia-Pancytopenia Syndrome
EUR J HUM GENET. 2024; 32: 1039-1040.
[Poster]
Web of Science
FullText
2023
Full paper/article (Journal)
** Mah-Som, AY; Daw, J; Huynh, D; Wu, M; Creekmore, BC; Burns, W; Skinner, SA; Holla, ØL; Smeland, MF; Planes, M; Uguen, K; Redon, S; Bierhals, T; Scholz, T; Denecke, J; Mensah, MA; Sczakiel, HL; Tichy, H; Verheyen, S; Blatterer, J; Schreiner, E; Thies, J; Lam, C; Spaeth, CG; Pena, L; Ramsey, K; Narayanan, V; Seaver, LH; Rodriguez, D; Afenjar, A; Burglen, L; Lee, EB; Chou, TF; Weihl, CC; Shinawi, MS
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet. 2023; 110(11): 1959-1975.
Doi: 10.1016/j.ajhg.2023.10.007
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2020
Full paper/article (Journal)
** Leitner, E; Schreiner, E; Neuhold, M; Bozic, M; Pux, C; Pichler, G; Schippinger, W; Steinmetz, I; Krause, R; Zollner-Schwetz, I
Low prevalence of Clostridium difficile colonization in patients in long-term care facilities in Graz, Austria: A point-prevalence study.
Am J Infect Control. 2020; 48(10):1144-1147
Doi: 10.1016/j.ajic.2019.12.011
Web of Science
PubMed
FullText
FullText_MUG