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

Year Number of Results
2002 12
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2005 18
2006 12
2007 19
2008 20
2009 25
2010 37
2011 21
2012 26
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2014 32
2015 39
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570 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.
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 No abstract available.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: liehr t. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
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.
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.
570 results