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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, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: goel h. 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.
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, Ten Hagen M, 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, … See abstract for full author list ➔ Lesmann H, et al. Among authors: goel h. medRxiv [Preprint]. 2024 May 21:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Genomic landscape of gallbladder cancer: insights from whole exome sequencing.
Awasthi S, Kumar R, Pradhan D, Rawal N, Goel H, Sahu P, Sisodiya S, Rana R, Kumar S, Dash NR, Das P, Agrawal U, Rath GK, Kaur T, Dhaliwal RS, Hussain S, Saluja SS, Tanwar P. Awasthi S, et al. Among authors: goel h. Int J Surg. 2024 Aug 14. doi: 10.1097/JS9.0000000000002031. Online ahead of print. Int J Surg. 2024. PMID: 39166960
Somatic mutational landscape across Indian breast cancer cases by whole exome sequencing.
Kumar R, Awasthi S, Pradhan D, Kumar R, Goel H, Singh J, Haider I, Deo SVS, Kumar C, Srivastava A, Bhatnagar A, Kumar R, Lakshmi S, Augustine P, Ranjan A, Chopra A, Gogia A, Batra A, Mathur S, Rath GK, Kaur T, Dhaliwal RS, Mathew A, Agrawal U, Hussain S, Tanwar P. Kumar R, et al. Among authors: goel h. Sci Rep. 2024 Aug 12;14(1):18679. doi: 10.1038/s41598-024-65148-4. Sci Rep. 2024. PMID: 39134585 Free PMC article.
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT. Hildebrand MS, et al. Among authors: goel h. Neurol Genet. 2024 Aug 6;10(5):e200181. doi: 10.1212/NXG.0000000000200181. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39131487 Free PMC article.
347 results