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Page 1
Role of CAMK2D in neurodevelopment and associated conditions.
Rigter PMF, de Konink C, Dunn MJ, Proietti Onori M, Humberson JB, Thomas M, Barnes C, Prada CE, Weaver KN, Ryan TD, Caluseriu O, Conway J, Calamaro E, Fong CT, Wuyts W, Meuwissen M, Hordijk E, Jonkers CN, Anderson L, Yuseinova B, Polonia S, Beysen D, Stark Z, Savva E, Poulton C, McKenzie F, Bhoj E, Bupp CP, Bézieau S, Mercier S, Blevins A, Wentzensen IM, Xia F, Rosenfeld JA, Hsieh TC, Krawitz PM, Elbracht M, Veenma DCM, Schulman H, Stratton MM, Küry S, van Woerden GM. Rigter PMF, et al. Among authors: krawitz pm. Am J Hum Genet. 2024 Feb 1;111(2):364-382. doi: 10.1016/j.ajhg.2023.12.016. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272033 Free PMC article.
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Hassanin E, Spier I, Bobbili DR, Aldisi R, Klinkhammer H, David F, Dueñas N, Hüneburg R, Perne C, Brunet J, Capella G, Nöthen MM, Forstner AJ, Mayr A, Krawitz P, May P, Aretz S, Maj C. Hassanin E, et al. BMC Med Genomics. 2023 Mar 5;16(1):42. doi: 10.1186/s12920-023-01469-z. BMC Med Genomics. 2023. PMID: 36872334 Free PMC article.
Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer".
Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schüller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schröder J, Hillmer AM, Heider D, Lordick F, Pérez-Aísa Á, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopeña F, Lanas Á, Pellisé M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhüser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Ławniczak M, Moreno V, Martín V, Kogevinas M, Pollán M, Dąbrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Hölscher AH, Messerle K, Bruns CJ, Sīviņš A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nöthen MM, Veits L, Izbicki JR, Mostowska A, Martinón-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Höblinger A, Rodermann E, Ludwig M, Keller G, Metspalu A, … See abstract for full author list ➔ Hess T, et al. EBioMedicine. 2023 Aug;94:104709. doi: 10.1016/j.ebiom.2023.104709. Epub 2023 Jul 20. EBioMedicine. 2023. PMID: 37480624 Free PMC article. No abstract available.
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
Kumar S, Borisov O, Maj C, Ralser DJ, Humbatova A, Hanneken S, Schmieder A, Groß J, Maintz L, Heineke A, Knuever J, Fagerberg C, Parmentier L, Anemüller W, Oji V, Tantcheva-Poór I, Fölster-Holst R, Wenzel J, Krawitz PM, Frank J, Betz RC. Kumar S, et al. Among authors: krawitz pm. J Invest Dermatol. 2024 Jan;144(1):181-184. doi: 10.1016/j.jid.2023.04.036. Epub 2023 Jul 17. J Invest Dermatol. 2024. PMID: 37468035 No abstract available.
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ, Vedaie M, Beisheim T, Park A, Marchi E, Gottlieb L, Hsieh TC, Klinkhammer H, Sandomirsky K, Cheng H, Starr LJ, Preddy I, Tseng M, Li Q, Hu Y, Wang K, Carvalho A, Martinez F, Caro-Llopis A, Gavin M, Amble K, Krawitz P, Marmorstein R, Herr-Israel E. Lyon GJ, et al. Eur J Hum Genet. 2023 Jul;31(7):824-833. doi: 10.1038/s41431-023-01368-y. Epub 2023 May 2. Eur J Hum Genet. 2023. PMID: 37130971 Free PMC article.
92 results