Liehr T - Search Results

1

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.

Hochstenbach R, Liehr T, Hastings RJ. Hochstenbach R, et al. Among authors: liehr t. Eur J Hum Genet. 2021 Apr;29(4):541-552. doi: 10.1038/s41431-020-00780-y. Epub 2020 Dec 11. Eur J Hum Genet. 2021. PMID: 33311710 Free PMC article. Review.

2

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).

Helmken C, Wetter A, Rudnik-Schöneborn S, Liehr T, Zerres K, Wirth B. Helmken C, et al. Among authors: liehr t. Eur J Hum Genet. 2000 Jul;8(7):493-9. doi: 10.1038/sj.ejhg.5200479. Eur J Hum Genet. 2000. PMID: 10909848

3

High-throughput sequencing of microdissected chromosomal regions.

Weise A, Timmermann B, Grabherr M, Werber M, Heyn P, Kosyakova N, Liehr T, Neitzel H, Konrat K, Bommer C, Dietrich C, Rajab A, Reinhardt R, Mundlos S, Lindner TH, Hoffmann K. Weise A, et al. Among authors: liehr t. Eur J Hum Genet. 2010 Apr;18(4):457-62. doi: 10.1038/ejhg.2009.196. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888302 Free PMC article.

4

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.

Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, Ziemkiewicz K, Gerloff C, Schanze D, Zenker M, Muschke P, Schanze I, Poot M, Liehr T. Hochstenbach R, et al. Among authors: liehr t. Mol Syndromol. 2016 Feb;6(5):210-21. doi: 10.1159/000441408. Epub 2015 Oct 31. Mol Syndromol. 2016. PMID: 26997941 Free PMC article.

5

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M. Liehr T, et al. Eur J Hum Genet. 2017 May;25(5):515-519. doi: 10.1038/ejhg.2017.25. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272535 Free PMC article.

6

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.

Liehr T, Carreira IM, Balogh Z, Garrido ED, Verdorfer I, Coviello DA, Florentin L, Scheffer H, Rincic M, Williams HE. Liehr T, et al. Eur J Hum Genet. 2019 Aug;27(8):1168-1174. doi: 10.1038/s41431-019-0379-4. Epub 2019 Mar 28. Eur J Hum Genet. 2019. PMID: 30923334 Free PMC article.

7

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.

8

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.

Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD. Liehr T, et al. Hum Genet. 1996 Jul;98(1):22-8. doi: 10.1007/s004390050154. Hum Genet. 1996. PMID: 8682501

9

Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.

von Deimling F, Scharf JM, Liehr T, Rothe M, Kelter AR, Albers P, Dietrich WF, Kunkel LM, Wernert N, Wirth B. von Deimling F, et al. Among authors: liehr t. Hum Genet. 1999 Jul-Aug;105(1-2):17-27. doi: 10.1007/s004399900067. Hum Genet. 1999. PMID: 10480350

10

A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).

Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T. Nietzel A, et al. Among authors: liehr t. Hum Genet. 2001 Mar;108(3):199-204. doi: 10.1007/s004390100459. Hum Genet. 2001. PMID: 11354630

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