BMC Medical Genetics is now archived and no
longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.
Volume 3, issue 1, December 2002
13 articles in this issue
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Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations
Authors (first, second and last of 4)
- Jeff Traynor
- Priyanka Agarwal
- Uta Francke
- Content type: Research article
- Open Access
- Published: 05 November 2002
- Article: 12
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Telomerase activity in human leukemic cells with or without monosomy 7 or 7q-
Authors
- Nedime Serakinci
- Jørn E Koch
- Content type: Research article
- Open Access
- Published: 29 October 2002
- Article: 11
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Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients
Authors (first, second and last of 4)
- Dominique P Germain
- Paul Avan
- Pierre Bonfils
- Content type: Research article
- Open Access
- Published: 11 October 2002
- Article: 10
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HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFEC282Y homozygosity in central Alabama
Authors
- James C Barton
- Ronald T Acton
- Content type: Research article
- Open Access
- Published: 07 October 2002
- Article: 9
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In vitrocorrection of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique
Authors (first, second and last of 8)
- Federica Sangiuolo
- Emanuela Bruscia
- Giuseppe Novelli
- Content type: Research article
- Open Access
- Published: 23 September 2002
- Article: 8
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Search for intracranial aneurysm susceptibility gene(s) using Finnish families
Authors (first, second and last of 8)
- Jane M Olson
- Sompong Vongpunsawad
- Gerard Tromp
- Content type: Research article
- Open Access
- Published: 01 August 2002
- Article: 7
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SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP) gene by a fluorescence-adapted SSCP method
Authors (first, second and last of 5)
- Teruaki Tozaki
- Nam-Ho Choi-Miura
- Motowo Tomita
- Content type: Research article
- Open Access
- Published: 29 July 2002
- Article: 6
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Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre
Authors (first, second and last of 10)
- Emiliano Giardina
- Francesca Capon
- Giuseppe Novelli
- Content type: Research article
- Open Access
- Published: 23 July 2002
- Article: 5
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A PCR-mutagenesis strategy for rapid detection of mutations in codon 634 of the retproto-oncogene related to MEN 2A.
Authors (first, second and last of 5)
- MarÃa Roqué
- Eduardo Pusiol
- Luis S Mayorga
- Content type: Research article
- Open Access
- Published: 21 May 2002
- Article: 4
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PTPRC(CD45) is not associated with multiple sclerosis in a large cohort of German patients
Authors (first, second and last of 5)
- Bianca Miterski
- Eckhart Sindern
- Joerg T Epplen
- Content type: Research article
- Open Access
- Published: 16 May 2002
- Article: 3
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A role for the collagen I/III and MMP-1/-13 genes in primary inguinal hernia?
Authors (first, second and last of 6)
- Raphael Rosch
- Uwe Klinge
- Volker Schumpelick
- Content type: Research article
- Open Access
- Published: 19 February 2002
- Article: 2
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The Siblings With Ischemic Stroke Study (SWISS) Protocol
Authors (first, second and last of 6)
- James F Meschia
- Robert D Brown Jr
- Stephen S Rich
- Content type: Study protocol
- Open Access
- Published: 12 February 2002
- Article: 1