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65 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: lace b. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
The most common European HINT1 neuropathy variant phenotype and its case studies.
Rozevska M, Rots D, Gailite L, Linde R, Mironovs S, Timcenko M, Linovs V, Locmele D, Micule I, Lace B, Kenina V. Rozevska M, et al. Among authors: lace b. Front Neurol. 2023 Feb 17;14:1084335. doi: 10.3389/fneur.2023.1084335. eCollection 2023. Front Neurol. 2023. PMID: 36873433 Free PMC article.
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Gardeitchik T, et al. Among authors: lace b. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963297 Free PMC article.
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Lace B, Inashkina I, Micule I, Vasiljeva I, Naudina MS, Strautmanis J, Stavusis J, Jankevics E. Lace B, et al. Case Rep Neurol Med. 2013;2013:254950. doi: 10.1155/2013/254950. Epub 2013 Aug 19. Case Rep Neurol Med. 2013. PMID: 24024053 Free PMC article.
CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J, Inashkina I, Jankevics E, Radovica I, Micule I, Strautmanis J, Naudina MS, Utkus A, Burnyte B, Lace B. Stavusis J, et al. Among authors: lace b. Acta Neurol Scand. 2015 Sep;132(3):185-90. doi: 10.1111/ane.12369. Epub 2015 Jan 28. Acta Neurol Scand. 2015. PMID: 25630502
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B. Inashkina I, et al. Among authors: lace b. BMC Musculoskelet Disord. 2016 May 4;17:200. doi: 10.1186/s12891-016-1058-z. BMC Musculoskelet Disord. 2016. PMID: 27142102 Free PMC article.
Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I. Micule I, et al. Among authors: lace b. Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022. Front Genet. 2022. PMID: 35222531 Free PMC article.
65 results