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Heteromorphic variants of chromosome 9.
Mol Cytogenet. 2013 Apr 1;6(1):14. doi: 10.1186/1755-8166-6-14.
Mol Cytogenet. 2013.
PMID: 23547710
Free PMC article.
The hierarchically organized splitting of chromosomal bands for all human chromosomes.
Kosyakova N, Weise A, Mrasek K, Claussen U, Liehr T, Nelle H.
Kosyakova N, et al. Among authors: nelle h.
Mol Cytogenet. 2009 Jan 26;2:4. doi: 10.1186/1755-8166-2-4.
Mol Cytogenet. 2009.
PMID: 19171032
Free PMC article.
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Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis: a case report.
Nelle H, Schreyer I, Ewers E, Mrasek K, Kosyakova N, Merkas M, Hamid AB, Fahsold R, Ujfalusi A, Anderson J, Rubtsov N, Küchler A, von Eggeling F, Hentschel J, Weise A, Liehr T.
Nelle H, et al.
Mol Med Rep. 2010 Jul-Aug;3(4):571-4. doi: 10.3892/mmr_00000299.
Mol Med Rep. 2010.
PMID: 21472281
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Early embryonic chromosome instability results in stable mosaic pattern in human tissues.
Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, Mrasek K, Kosyakova N, Ewers E, Nelle H, Liehr T, Volleth M, Weise A.
Mkrtchyan H, et al. Among authors: nelle h.
PLoS One. 2010 Mar 9;5(3):e9591. doi: 10.1371/journal.pone.0009591.
PLoS One. 2010.
PMID: 20231887
Free PMC article.
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The human genome puzzle - the role of copy number variation in somatic mosaicism.
Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, Mrasek K, Kosyakova N, Ewers E, Nelle H, Liehr T, Bhatt S, Thoma K, Gebhart E, Wilhelm S, Fahsold R, Volleth M, Weise A.
Mkrtchyan H, et al. Among authors: nelle h.
Curr Genomics. 2010 Sep;11(6):426-31. doi: 10.2174/138920210793176047.
Curr Genomics. 2010.
PMID: 21358987
Free PMC article.
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Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?
Hentschel J, Riesener G, Nelle H, Stuhrmann M, Schöner A, Sommerburg O, Fritzsching E, Mall MA, von Eggeling F, Mainz JG.
Hentschel J, et al. Among authors: nelle h.
Eur J Pediatr. 2012 Jul;171(7):1039-46. doi: 10.1007/s00431-012-1672-1. Epub 2012 Jan 25.
Eur J Pediatr. 2012.
PMID: 22274833
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An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F.
Auber B, et al. Among authors: nelle h.
Clin Genet. 2010 Jun;77(6):593-7. doi: 10.1111/j.1399-0004.2009.01363.x. Epub 2010 Mar 1.
Clin Genet. 2010.
PMID: 20236119
No abstract available.
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.
Meester JAN, et al. Among authors: nelle h.
Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.
Hum Mutat. 2018.
PMID: 29924900
Free PMC article.
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