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204 results

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Page 1
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: gripp kw. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Not Antley-Bixler syndrome.
Gripp KW, Zackai EH, Cohen MM Jr. Gripp KW, et al. Am J Med Genet. 1999 Mar 5;83(1):65-8. Am J Med Genet. 1999. PMID: 10076887 Review. No abstract available.
Mutations in the human TWIST gene.
Gripp KW, Zackai EH, Stolle CA. Gripp KW, et al. Hum Mutat. 2000;15(2):150-5. doi: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10649491 Review.
Craniosynostosis: molecular testing-a necessity for counseling.
Zackai EH, Gripp KW, Stolle CA. Zackai EH, et al. Among authors: gripp kw. Am J Med Genet. 2000 May 15;92(2):157. doi: 10.1002/(sici)1096-8628(20000515)92:2<157::aid-ajmg16>3.0.co;2-8. Am J Med Genet. 2000. PMID: 10797444 No abstract available.
204 results