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Page 1
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: weis d. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
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: weis d. 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.
Effects of land cover and protected areas on flying insect diversity.
Sinclair JS, Buchner D, Gessner MO, Müller J, Pauls SU, Stoll S, Welti EAR, Bässler C, Buse J, Dziock F, Enss J, Hörren T, Künast R, Li Y, Marten A, Morkel C, Richter R, Seibold S, Sorg M, Twietmeyer S, Weis D, Weisser W, Wiggering B, Wilmking M, Zotz G, Frenzel M, Leese F, Haase P. Sinclair JS, et al. Among authors: weis d. Conserv Biol. 2024 Dec 4:e14425. doi: 10.1111/cobi.14425. Online ahead of print. Conserv Biol. 2024. PMID: 39628456
Distribution and diversity of classical deacylases in bacteria.
Graf LG, Moreno-Yruela C, Qin C, Schulze S, Palm GJ, Schmöker O, Wang N, Hocking DM, Jebeli L, Girbardt B, Berndt L, Dörre B, Weis DM, Janetzky M, Albrecht D, Zühlke D, Sievers S, Strugnell RA, Olsen CA, Hofmann K, Lammers M. Graf LG, et al. Among authors: weis dm. Nat Commun. 2024 Nov 3;15(1):9496. doi: 10.1038/s41467-024-53903-0. Nat Commun. 2024. PMID: 39489725 Free PMC article.
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, Dupuis L, Dickson M, Lesman H, Lau T, Murphy D, Hama Salih K, Al-Musawi BMS, Al-Obaidi RGY, Rydzanicz M, Biela M, Santos MS, Aldeeri A, Gazda HT, Pais L, Shril S, Døllner H, Bartakke S, Laccone F, Soltysova A, Kitzler T, Soliman NA, Relator R, Levy MA, Kerkhof J, Rzasa J, Houlden H, Pilshofer GV, Jobst-Schwan T, Hildebrandt F, Sousa SB, Maroofian R, Yu TW, Krawitz P, Sadikovic B, Douzgou Houge S. Karimi K, et al. Among authors: weis d. Eur J Hum Genet. 2024 Dec;32(12):1574-1582. doi: 10.1038/s41431-024-01702-y. Epub 2024 Oct 19. Eur J Hum Genet. 2024. PMID: 39424669
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: weis d. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
188 results