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Human Mutation Volume 17 Issue 6

2013
- Volume 34
2012
- Volume 33
2011
- Volume 32
2010
- Volume 31
2009
- Volume 30
2008
- Volume 29
2007
- Volume 28
2006
- Volume 27
2005
- Volume 26
- Volume 25
2004
- Volume 24
- Volume 23
2003
- Volume 22
- Volume 21
2002
- Volume 20
- Volume 19
2001
- Volume 18
- Volume 17
2000
- Volume 16
- Volume 15
1999
- Volume 14
- Volume 13
1998
- Volume 12
- Volume 11
1997
- Volume 10
- Volume 9
1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
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1992
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Transthyretin mutations in hyperthyroxinemia and amyloid diseases

Saraiva, Maria João Mascarenhas

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Automation in genotyping of single nucleotide polymorphisms

Gut, Ivo G.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

Vega, Ana; Campos, Berta; Bressac‐de‐Paillerets, Brigitte; Bond, Patricia M.; Janin, Nicolas; Douglas, Fiona S.; Domènech, Montserrat; Baena, Manel; Pericay, Carles; Alonso, Carmen; Carracedo, Angel; Baiget, Montserrat; Diez, Orland

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Mutations in the connexin26/GJB2 gene are the most common event in non‐syndromic hearing loss among the German population

Gabriel, Heinz; Kupsch, Petra; Sudendey, Jürgen; Winterhager, Elke; Jahnke, Klaus; Lautermann, Jürgen

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

Hoffmann, Bernard; Schmidt‐Traub, Hajo; Perrot, Andreas; Osterziel, Karl Josef; Geßner, Reinhard

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype

Suárez‐Merino, B.; Bye, J.; McDowall, J.; Ross, M.; Craig, I.W.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Frequency of recent retrotransposition events in the human factor IX gene

Li, Xuemin; Scaringe, William A.; Hill, Kathleen A.; Roberts, Stacy; Mengos, April; Careri, Diane; Pinto, Miguel Tezanos; Kasper, Carol K.; Sommer, Steve S.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

Caluseriu, Oana; Cordisco, Emanuela Lucci; Viel, Alessandra; Majore, Silvia; Nascimben, Riccardo; Pucciarelli, Salvatore; Genuardi, Maurizio

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

Martinez‐Gimeno, María; Maseras, Miquel; Baiget, Montserrat; Beneito, Magdalena; Antiñolo, Gillermo; Ayuso, Carmen; Carballo, Miguel

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001
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Denaturing high‐performance liquid chromatography: A review

Xiao, Wenzhong; Oefner, Peter J.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Human Mutation Volume 17 Issue 6

Transthyretin mutations in hyperthyroxinemia and amyloid diseases

Saraiva, Maria João Mascarenhas

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Automation in genotyping of single nucleotide polymorphisms

Gut, Ivo G.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

Vega, Ana; Campos, Berta; Bressac‐de‐Paillerets, Brigitte; Bond, Patricia M.; Janin, Nicolas; Douglas, Fiona S.; Domènech, Montserrat; Baena, Manel; Pericay, Carles; Alonso, Carmen; Carracedo, Angel; Baiget, Montserrat; Diez, Orland

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Mutations in the connexin26/GJB2 gene are the most common event in non‐syndromic hearing loss among the German population

Gabriel, Heinz; Kupsch, Petra; Sudendey, Jürgen; Winterhager, Elke; Jahnke, Klaus; Lautermann, Jürgen

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

Hoffmann, Bernard; Schmidt‐Traub, Hajo; Perrot, Andreas; Osterziel, Karl Josef; Geßner, Reinhard

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype

Suárez‐Merino, B.; Bye, J.; McDowall, J.; Ross, M.; Craig, I.W.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Frequency of recent retrotransposition events in the human factor IX gene

Li, Xuemin; Scaringe, William A.; Hill, Kathleen A.; Roberts, Stacy; Mengos, April; Careri, Diane; Pinto, Miguel Tezanos; Kasper, Carol K.; Sommer, Steve S.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

Caluseriu, Oana; Cordisco, Emanuela Lucci; Viel, Alessandra; Majore, Silvia; Nascimben, Riccardo; Pucciarelli, Salvatore; Genuardi, Maurizio

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

Martinez‐Gimeno, María; Maseras, Miquel; Baiget, Montserrat; Beneito, Magdalena; Antiñolo, Gillermo; Ayuso, Carmen; Carballo, Miguel

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Denaturing high‐performance liquid chromatography: A review

Xiao, Wenzhong; Oefner, Peter J.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

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Human Mutation Volume 17 Issue 6

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Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Vega, Ana; Campos, Berta; Bressac‐de‐Paillerets, Brigitte; Bond, Patricia M.; Janin, Nicolas; Douglas, Fiona S.; Domènech, Montserrat; Baena, Manel; Pericay, Carles; Alonso, Carmen; Carracedo, Angel; Baiget, Montserrat; Diez, Orland

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Gabriel, Heinz; Kupsch, Petra; Sudendey, Jürgen; Winterhager, Elke; Jahnke, Klaus; Lautermann, Jürgen

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Hoffmann, Bernard; Schmidt‐Traub, Hajo; Perrot, Andreas; Osterziel, Karl Josef; Geßner, Reinhard

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Suárez‐Merino, B.; Bye, J.; McDowall, J.; Ross, M.; Craig, I.W.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Li, Xuemin; Scaringe, William A.; Hill, Kathleen A.; Roberts, Stacy; Mengos, April; Careri, Diane; Pinto, Miguel Tezanos; Kasper, Carol K.; Sommer, Steve S.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Caluseriu, Oana; Cordisco, Emanuela Lucci; Viel, Alessandra; Majore, Silvia; Nascimben, Riccardo; Pucciarelli, Salvatore; Genuardi, Maurizio

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Martinez‐Gimeno, María; Maseras, Miquel; Baiget, Montserrat; Beneito, Magdalena; Antiñolo, Gillermo; Ayuso, Carmen; Carballo, Miguel

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001

Xiao, Wenzhong; Oefner, Peter J.

Follow Human Mutation , Volume 17 (6) Wiley – Jun 1, 2001