Haan E - Search Results

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. Among authors: haan e. 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.

2

Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy.

Richards RI, Friend K, Haan EA. Richards RI, et al. Among authors: haan ea. Am J Hum Genet. 1992 Feb;50(2):448-9. Am J Hum Genet. 1992. PMID: 1734728 Free PMC article. No abstract available.

3

Assignment of the gene for central core disease to chromosome 19.

Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC. Haan EA, et al. Hum Genet. 1990 Dec;86(2):187-90. doi: 10.1007/BF00197703. Hum Genet. 1990. PMID: 2265831

4

Mutation detection in FGFR2 craniosynostosis syndromes.

Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC. Hollway GE, et al. Among authors: haan ea. Hum Genet. 1997 Feb;99(2):251-5. doi: 10.1007/s004390050348. Hum Genet. 1997. PMID: 9048930

5

FMR2 expression in families with FRAXE mental retardation.

Gécz J, Oostra BA, Hockey A, Carbonell P, Turner G, Haan EA, Sutherland GR, Mulley JC. Gécz J, et al. Among authors: haan ea. Hum Mol Genet. 1997 Mar;6(3):435-41. doi: 10.1093/hmg/6.3.435. Hum Mol Genet. 1997. PMID: 9147647

6

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D. D'Adamo P, et al. Among authors: haan e. Am J Hum Genet. 1997 Oct;61(4):862-7. doi: 10.1086/514886. Am J Hum Genet. 1997. PMID: 9382096 Free PMC article.

7

Autosomal dominant Klippel-Feil anomaly with cleft palate.

Thompson E, Haan E, Sheffield L. Thompson E, et al. Among authors: haan e. Clin Dysmorphol. 1998 Jan;7(1):11-5. Clin Dysmorphol. 1998. PMID: 9546824

8

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.

Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, Harris A, Donnai D, Read A, Kenwrick S. Woffendin H, et al. Among authors: haan e. Clin Genet. 1999 Jan;55(1):55-60. doi: 10.1034/j.1399-0004.1999.550110.x. Clin Genet. 1999. PMID: 10066033

9

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.

Donnelly A, Haan E, Manson J, Mulley J. Donnelly A, et al. Among authors: haan e. Hum Mutat. 1998;11(4):334. doi: 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#. Hum Mutat. 1998. PMID: 10215413

10

PEHO and PEHO-like syndromes: report of five Australian cases.

Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Adès LC. Field MJ, et al. Among authors: haan ea. Am J Med Genet A. 2003 Sep 15;122A(1):6-12. doi: 10.1002/ajmg.a.20216. Am J Med Genet A. 2003. PMID: 12949965

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