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Thrombocytopenia-absent radius syndrome: a clinical genetic study.
Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA. Greenhalgh KL, et al. J Med Genet. 2002 Dec;39(12):876-81. doi: 10.1136/jmg.39.12.876. J Med Genet. 2002. PMID: 12471199 Free PMC article.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, Alibeu O, Fritz AK, Wolfer DP, Schröter A, Bosshard G, Rudin M, Koester C, Crestani F, Seebeck P, Boddaert N, Prescott K; DDD Study; Hines R, Moss SJ, Fritschy JM, Munnich A, Amiel J, Brown SA, Tyagarajan SK, Colleaux L. Mircsof D, et al. Nat Neurosci. 2015 Dec;18(12):1731-6. doi: 10.1038/nn.4169. Epub 2015 Nov 16. Nat Neurosci. 2015. PMID: 26571461 Free PMC article.
Sex linked valvular dysplasia.
Newbury-Ecob RA, Zuccollo JM, Rutter N, Young ID. Newbury-Ecob RA, et al. J Med Genet. 1993 Oct;30(10):873-4. doi: 10.1136/jmg.30.10.873. J Med Genet. 1993. PMID: 8230166 Free PMC article.
Holt-Oram syndrome: a clinical genetic study.
Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. Newbury-Ecob RA, et al. J Med Genet. 1996 Apr;33(4):300-7. doi: 10.1136/jmg.33.4.300. J Med Genet. 1996. PMID: 8730285 Free PMC article.
Atelosteogenesis type 2.
Newbury-Ecob R. Newbury-Ecob R. J Med Genet. 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49. J Med Genet. 1998. PMID: 9475095 Free PMC article. Review.
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Celli J, et al. Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3. Cell. 1999. PMID: 10535733 Free article.
134 results