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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2008 2
2009 2
2010 5
2011 2
2012 2
2013 6
2014 1
2015 3
2016 1
2017 3
2018 1
2019 3
2020 1
2024 0

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28 results

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Page 1
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Clinical and Molecular Characterization of Prader-Willi Syndrome.
Sanjeeva GN, Maganthi M, Kodishala H, Marol RKR, Kulshreshtha PS, Lorenzetto E, Kadandale JS, Hladnik U, Raghupathy P, Bhat M. Sanjeeva GN, et al. Among authors: hladnik u. Indian J Pediatr. 2017 Nov;84(11):815-821. doi: 10.1007/s12098-017-2386-1. Epub 2017 Jun 29. Indian J Pediatr. 2017. PMID: 28660389
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, Nisticò SP, Colao E, Perrotti N, Iuliano R. Contrò G, et al. Among authors: hladnik u. Hum Genome Var. 2019 Jun 20;6:30. doi: 10.1038/s41439-019-0062-x. eCollection 2019. Hum Genome Var. 2019. PMID: 31240106 Free PMC article.
Nuclear GSK-3β segregation in desmoid-type fibromatosis.
Meneghello C, Ousghir B, Rastrelli M, Anesi L, Sommariva A, Montesco MC, Rossi CR, Hladnik U, Segat D. Meneghello C, et al. Among authors: hladnik u. Histopathology. 2013 Jun;62(7):1098-108. doi: 10.1111/his.12133. Epub 2013 Apr 24. Histopathology. 2013. PMID: 23614534
28 results