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

Year Number of Results
1992 2
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1996 3
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1999 10
2000 11
2001 20
2002 18
2003 28
2004 17
2005 26
2006 21
2007 30
2008 25
2009 33
2010 47
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2012 33
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743 results

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Page 1
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. Among authors: liehr t. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G. Spahiu L, et al. Among authors: liehr t. Pediatr Endocrinol Diabetes Metab. 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 34743503 Free PMC article. Review.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: liehr t. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
Preface.
Trifonov VA, Cioffi MB, Liehr T. Trifonov VA, et al. Among authors: liehr t. Cytogenet Genome Res. 2021;161(1-2):5. doi: 10.1159/000513608. Epub 2021 Apr 22. Cytogenet Genome Res. 2021. PMID: 33887739 Free article. No abstract available.
Repetitive Elements in Humans.
Liehr T. Liehr T. Int J Mol Sci. 2021 Feb 19;22(4):2072. doi: 10.3390/ijms22042072. Int J Mol Sci. 2021. PMID: 33669810 Free PMC article. Review.
Non-Invasive Prenatal Testing in Germany.
Liehr T, Harutyunyan T, Williams H, Weise A. Liehr T, et al. Diagnostics (Basel). 2022 Nov 16;12(11):2816. doi: 10.3390/diagnostics12112816. Diagnostics (Basel). 2022. PMID: 36428876 Free PMC article. Review.
743 results