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Human Mutation Volume 24 Issue 1

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
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1995
- Volume 6
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1994
- Volume 4
- Volume 3
1993
- Volume 2
1992
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Functional analysis of polymorphisms in the promoter regions of genes on 22q11

Hoogendoorn, Bastiaan; Coleman, Sharon L.; Guy, Carol A.; Smith, S. Kaye; O'Donovan, Michael C.; Buckland, Paul R.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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The androgen receptor gene mutations database (ARDB): 2004 update

Gottlieb, Bruce; Beitel, Lenore K.; Wu, Jian Hui; Trifiro, Mark

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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Screening of 25 Italian patients with Niemann‐Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

Ricci, V.; Stroppiano, M.; Corsolini, F.; Di Rocco, M.; Parenti, G.; Regis, S.; Grossi, S.; Biancheri, R.; Mazzotti, R.; Filocamo, M.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse

Gilbert, Nicolas; Bomar, Jamee M.; Burmeister, Margit; Moran, John V.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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Molecular screening of SHH , ZIC2 , SIX3 , and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

Dubourg, Christèle; Lazaro, Leïla; Pasquier, Laurent; Bendavid, Claude; Blayau, Martine; Duff, Franck Le; Durou, Marie‐Renée; Odent, Sylvie; David, Véronique

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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Two‐color multiplex ligation‐dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

White, Stefan J.; Vink, Geraldine R.; Kriek, Marjolein; Wuyts, Wim; Schouten, Jan; Bakker, Bert; Breuning, Martijn H.; Dunnen, Johan T. den

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia

Plummer, Sally; Tower, Clare; Alonso, Pedro; Morgan, Linda; Baker, Phil; Broughton‐Pipkin, Fiona; Kalsheker, Noor

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy

Caligo, Maria Adelaide; Agata, Simona; Aceto, Gitana; Crucianelli, Rosella; Manoukian, Siranoush; Peissel, Bernard; Scaini, Maria Chiara; Sensi, Elisa; Veschi, Serena; Cama, Alessandro; Radice, Paolo; Viel, Alessandra; D'Andrea, Emma; Montagna, Marco

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes

Leprêtre, Frédéric; Vasseur, Francis; Vaxillaire, Martine; Scherer, Philipp E.; Ali, Saira; Linton, Kenneth; Aitman, Timothy; Froguel, Philippe

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004
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Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma

Wang, Yun; Kringen, Pedro; Kristensen, Gunnar B.; Holm, Ruth; Baekelandt, Mark M.O.; Olivier, Magali; Skomedal, Hanne; Hainaut, Pierre; Tropé, Claes G.; Abeler, Vera M.; Nesland, Jahn M.; Børresen‐Dale, Anne‐Lise; Helland, Åslaug

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Human Mutation Volume 24 Issue 1

Functional analysis of polymorphisms in the promoter regions of genes on 22q11

Hoogendoorn, Bastiaan; Coleman, Sharon L.; Guy, Carol A.; Smith, S. Kaye; O'Donovan, Michael C.; Buckland, Paul R.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

The androgen receptor gene mutations database (ARDB): 2004 update

Gottlieb, Bruce; Beitel, Lenore K.; Wu, Jian Hui; Trifiro, Mark

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Screening of 25 Italian patients with Niemann‐Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

Ricci, V.; Stroppiano, M.; Corsolini, F.; Di Rocco, M.; Parenti, G.; Regis, S.; Grossi, S.; Biancheri, R.; Mazzotti, R.; Filocamo, M.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse

Gilbert, Nicolas; Bomar, Jamee M.; Burmeister, Margit; Moran, John V.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Molecular screening of SHH , ZIC2 , SIX3 , and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

Dubourg, Christèle; Lazaro, Leïla; Pasquier, Laurent; Bendavid, Claude; Blayau, Martine; Duff, Franck Le; Durou, Marie‐Renée; Odent, Sylvie; David, Véronique

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Two‐color multiplex ligation‐dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

White, Stefan J.; Vink, Geraldine R.; Kriek, Marjolein; Wuyts, Wim; Schouten, Jan; Bakker, Bert; Breuning, Martijn H.; Dunnen, Johan T. den

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia

Plummer, Sally; Tower, Clare; Alonso, Pedro; Morgan, Linda; Baker, Phil; Broughton‐Pipkin, Fiona; Kalsheker, Noor

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy

Caligo, Maria Adelaide; Agata, Simona; Aceto, Gitana; Crucianelli, Rosella; Manoukian, Siranoush; Peissel, Bernard; Scaini, Maria Chiara; Sensi, Elisa; Veschi, Serena; Cama, Alessandro; Radice, Paolo; Viel, Alessandra; D'Andrea, Emma; Montagna, Marco

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes

Leprêtre, Frédéric; Vasseur, Francis; Vaxillaire, Martine; Scherer, Philipp E.; Ali, Saira; Linton, Kenneth; Aitman, Timothy; Froguel, Philippe

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma

Wang, Yun; Kringen, Pedro; Kristensen, Gunnar B.; Holm, Ruth; Baekelandt, Mark M.O.; Olivier, Magali; Skomedal, Hanne; Hainaut, Pierre; Tropé, Claes G.; Abeler, Vera M.; Nesland, Jahn M.; Børresen‐Dale, Anne‐Lise; Helland, Åslaug

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

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Human Mutation Volume 24 Issue 1

1 - 10 of 19 articles

Hoogendoorn, Bastiaan; Coleman, Sharon L.; Guy, Carol A.; Smith, S. Kaye; O'Donovan, Michael C.; Buckland, Paul R.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Gottlieb, Bruce; Beitel, Lenore K.; Wu, Jian Hui; Trifiro, Mark

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Ricci, V.; Stroppiano, M.; Corsolini, F.; Di Rocco, M.; Parenti, G.; Regis, S.; Grossi, S.; Biancheri, R.; Mazzotti, R.; Filocamo, M.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Gilbert, Nicolas; Bomar, Jamee M.; Burmeister, Margit; Moran, John V.

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Dubourg, Christèle; Lazaro, Leïla; Pasquier, Laurent; Bendavid, Claude; Blayau, Martine; Duff, Franck Le; Durou, Marie‐Renée; Odent, Sylvie; David, Véronique

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

White, Stefan J.; Vink, Geraldine R.; Kriek, Marjolein; Wuyts, Wim; Schouten, Jan; Bakker, Bert; Breuning, Martijn H.; Dunnen, Johan T. den

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Plummer, Sally; Tower, Clare; Alonso, Pedro; Morgan, Linda; Baker, Phil; Broughton‐Pipkin, Fiona; Kalsheker, Noor

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Caligo, Maria Adelaide; Agata, Simona; Aceto, Gitana; Crucianelli, Rosella; Manoukian, Siranoush; Peissel, Bernard; Scaini, Maria Chiara; Sensi, Elisa; Veschi, Serena; Cama, Alessandro; Radice, Paolo; Viel, Alessandra; D'Andrea, Emma; Montagna, Marco

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Leprêtre, Frédéric; Vasseur, Francis; Vaxillaire, Martine; Scherer, Philipp E.; Ali, Saira; Linton, Kenneth; Aitman, Timothy; Froguel, Philippe

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004

Wang, Yun; Kringen, Pedro; Kristensen, Gunnar B.; Holm, Ruth; Baekelandt, Mark M.O.; Olivier, Magali; Skomedal, Hanne; Hainaut, Pierre; Tropé, Claes G.; Abeler, Vera M.; Nesland, Jahn M.; Børresen‐Dale, Anne‐Lise; Helland, Åslaug

Follow Human Mutation , Volume 24 (1) Wiley – Jul 1, 2004