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Marshall-Smith syndrome: the expanding phenotype.
Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. Williams DK, et al. J Med Genet. 1997 Oct;34(10):842-5. doi: 10.1136/jmg.34.10.842. J Med Genet. 1997. PMID: 9350818 Free PMC article.
Acromelic frontonasal dysostosis.
Slaney SF, Goodman FR, Eilers-Walsman BL, Hall BD, Williams DK, Young ID, Hayward RD, Jones BM, Christianson AL, Winter RM. Slaney SF, et al. Among authors: williams dk. Am J Med Genet. 1999 Mar 12;83(2):109-16. Am J Med Genet. 1999. PMID: 10190481 Review.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, Leeson-Beevers K, Allen S, Baple EL, Beleza-Meireles A, Bertoli M, Campbell J, Canham N, Cilliers D, Cobben J, Eason J, Harrison V, Holder-Espinasse M, Male A, Mansour S, McEwan A, Park SM, Smith A, Stewart A, Tapon D, Vasudevan P, Williams D, Wu WH, Chitty LS, Hill M. Peter M, et al. Front Genet. 2024 Jun 5;15:1401705. doi: 10.3389/fgene.2024.1401705. eCollection 2024. Front Genet. 2024. PMID: 38903755 Free PMC article.
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE, Trembath RC, Nichols WC. Machado RD, et al. Am J Hum Genet. 2001 Jan;68(1):92-102. doi: 10.1086/316947. Epub 2000 Dec 12. Am J Hum Genet. 2001. PMID: 11115378 Free PMC article.
Mapping the human Y chromosome by fingerprinting cosmid clones.
Taylor K, Hornigold N, Conway D, Williams D, Ulinowski Z, Agochiya M, Fattorini P, de Jong P, Little PF, Wolfe J. Taylor K, et al. Genome Res. 1996 Apr;6(4):235-48. doi: 10.1101/gr.6.4.235. Genome Res. 1996. PMID: 8723717 Free article.
221 results