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186 results

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Page 1
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, Zarat… See abstract for full author list ➔ Lesmann H, et al. Among authors: arlt a. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Erratum zu: 77/w mit Luftnot und Schwindel.
Arlt A. Arlt A. Inn Med (Heidelb). 2024 Oct;65(10):1051. doi: 10.1007/s00108-024-01798-w. Inn Med (Heidelb). 2024. PMID: 39287695 German. No abstract available.
Premature cognitive decline in a mouse model of tuberous sclerosis.
Krummeich J, Nardi L, Caliendo C, Aschauer D, Engelhardt V, Arlt A, Maier J, Bicker F, Kwiatkowski MD, Rolski K, Vincze K, Schneider R, Rumpel S, Gerber S, Schmeisser MJ, Schweiger S. Krummeich J, et al. Among authors: arlt a. Aging Cell. 2024 Dec;23(12):e14318. doi: 10.1111/acel.14318. Epub 2024 Aug 27. Aging Cell. 2024. PMID: 39192595 Free PMC article.
Integrating the Patient Perspective to Validate a Measure of Disease Severity in Inflammatory Bowel Disease: Online Survey of Patients and Their Physicians.
Timmer A, Neuser J, de Sordi D, Schmidt-Lauber M, Allgayer H, Reichel C, Klebl F, Obermeier F, Schnoy E, Jessen P, Morgenstern J, Helwig U, Maaser C, Leifeld L, Schmidt S, Meinhardt C, Böcker U, Arlt A, Bästlein E, Bokemeyer A, Preiß JC, Otto-Sobotka F, Kaltz B, Sander C, Kruis W. Timmer A, et al. Among authors: arlt a. Inflamm Bowel Dis. 2024 Jun 29:izae127. doi: 10.1093/ibd/izae127. Online ahead of print. Inflamm Bowel Dis. 2024. PMID: 38944765
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, … See abstract for full author list ➔ Lesmann H, et al. Among authors: arlt a. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
Definition of the Post-COVID syndrome using a symptom-based Post-COVID score in a prospective, multi-center, cross-sectoral cohort of the German National Pandemic Cohort Network (NAPKON).
Appel KS, Nürnberger C, Bahmer T, Förster C, Polidori MC, Kohls M, Kraus T, Hettich-Damm N, Petersen J, Blaschke S, Bröhl I, Butzmann J, Dashti H, Deckert J, Dreher M, Fiedler K, Finke C, Geisler R, Hanses F, Hopff SM, Jensen BO, Konik M, Lehnert K, de Miranda SMN, Mitrov L, Miljukov O, Reese JP, Rohde G, Scherer M, Tausche K, Tebbe JJ, Vehreschild JJ, Voit F, Wagner P, Weigl M, Lemhöfer C; NAPKON Study Group. Appel KS, et al. Infection. 2024 Oct;52(5):1813-1829. doi: 10.1007/s15010-024-02226-9. Epub 2024 Apr 8. Infection. 2024. PMID: 38587752 Free PMC article.
186 results