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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: haber r. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 Free PMC article.
Cowden syndrome and Lhermitte-Duclos disease.
Albrecht S, Haber RM, Goodman JC, Duvic M. Albrecht S, et al. Among authors: haber rm. Cancer. 1992 Aug 15;70(4):869-76. doi: 10.1002/1097-0142(19920815)70:4<869::aid-cncr2820700424>3.0.co;2-e. Cancer. 1992. PMID: 1643619 Review.
Therapeutic potential of GLP-1 agonists for hidradenitis suppurativa.
Henry T, Cahn B, Haber R, Landers JT, Berger-Fleishman R, Alam M, Hoyer S. Henry T, et al. Among authors: haber r. Int J Dermatol. 2023 Dec;62(12):1543-1544. doi: 10.1111/ijd.16892. Epub 2023 Oct 28. Int J Dermatol. 2023. PMID: 37897079 No abstract available.
318 results