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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7.
Am J Hum Genet. 2020.
PMID: 32386558
Free PMC article.
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E.
Misceo D, et al. Among authors: senaratne lds.
Genes (Basel). 2023 Oct 24;14(11):1985. doi: 10.3390/genes14111985.
Genes (Basel). 2023.
PMID: 38002928
Free PMC article.
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D.
Epting D, et al. Among authors: senaratne lds.
Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1.
Hum Mutat. 2020.
PMID: 33131181
Free PMC article.
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Genital piercing and beading; threat to life?
Senaratne LD, Perera NI, Ratnatilaka GA.
Senaratne LD, et al.
Ceylon Med J. 2014 Sep;59(3):106. doi: 10.4038/cmj.v59i3.7481.
Ceylon Med J. 2014.
PMID: 25286102
Free article.
No abstract available.
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