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Human Mutation Volume 25 Issue 2

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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Erratum: Germline mutations in MLH1 , MSH2 and MSH6 in Korean hereditary non‐polyposis colorectal cancer families

Shin, Young‐Kyoung; Heo, Seung‐Chul; Shin, Joo‐Ho; Hong, Sung‐Hye; Ku, Ja‐Lok; Yoo, Byong‐Chul; Kim, Il‐Jin; Park, Jae‐Gahb

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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DNA damage detection and repair, and the involvement of epigenetic states

Bassal, Sahar; El‐Osta, Assam

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Chen, Jian‐Min; Chuzhanova, Nadia; Stenson, Peter D.; Férec, Claude; Cooper, David N.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by mut ° and mut – forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

Acquaviva, Cécile; Benoist, Jean‐François; Pereira, Sabrina; Callebaut, Isabelle; Koskas, Thu; Porquet, Dominique; Elion, Jacques

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy

Montagna, Giorgia; Di Biase, Antonella; Cappa, Marco; Melone, Mariarosa A.B.; Piantadosi, Carlo; Colabianchi, Diego; Patrono, Clarice; Attori, Lucilla; Cannelli, Natalia; Cotrufo, Roberto; Salvati, Serafina; Santorelli, Filippo M.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C ( ADH1C ) gene expression

Chen, Hui‐Ju; Tian, Huijun; Edenberg, Howard J.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Characterization of genotype–phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers

Crawford, Nigel P.S.; Colliver, Daniel W.; Funke, Alisa A.; Young, Michael N.; Kelley, Scott; Cobbs, Gary A.; Petras, Robert E.; Galandiuk, Susan

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

Michils, Geneviève; Tejpar, Sabine; Thoelen, Reinhilde; Cutsem, Eric van; Vermeesch, Joris Robert; Fryns, Jean‐Pierre; Legius, Eric; Matthijs, Gert

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Buzin, Carolyn H.; Feng, Jinong; Yan, Jin; Scaringe, William; Liu, Qiang; den Dunnen, Johan; Mendell, Jerry R.; Sommer, Steve S.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005
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Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study

Levran, Orna; Diotti, Raffaella; Pujara, Kanan; Batish, Sat D.; Hanenberg, Helmut; Auerbach, Arleen D.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Human Mutation Volume 25 Issue 2

Erratum: Germline mutations in MLH1 , MSH2 and MSH6 in Korean hereditary non‐polyposis colorectal cancer families

Shin, Young‐Kyoung; Heo, Seung‐Chul; Shin, Joo‐Ho; Hong, Sung‐Hye; Ku, Ja‐Lok; Yoo, Byong‐Chul; Kim, Il‐Jin; Park, Jae‐Gahb

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

DNA damage detection and repair, and the involvement of epigenetic states

Bassal, Sahar; El‐Osta, Assam

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Chen, Jian‐Min; Chuzhanova, Nadia; Stenson, Peter D.; Férec, Claude; Cooper, David N.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Molecular basis of methylmalonyl‐CoA mutase apoenzyme defect in 40 European patients affected by mut ° and mut – forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

Acquaviva, Cécile; Benoist, Jean‐François; Pereira, Sabrina; Callebaut, Isabelle; Koskas, Thu; Porquet, Dominique; Elion, Jacques

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy

Montagna, Giorgia; Di Biase, Antonella; Cappa, Marco; Melone, Mariarosa A.B.; Piantadosi, Carlo; Colabianchi, Diego; Patrono, Clarice; Attori, Lucilla; Cannelli, Natalia; Cotrufo, Roberto; Salvati, Serafina; Santorelli, Filippo M.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C ( ADH1C ) gene expression

Chen, Hui‐Ju; Tian, Huijun; Edenberg, Howard J.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Characterization of genotype–phenotype relationships and stratification by the CARD15 variant genotype for inflammatory bowel disease susceptibility loci using multiple short tandem repeat genetic markers

Crawford, Nigel P.S.; Colliver, Daniel W.; Funke, Alisa A.; Young, Michael N.; Kelley, Scott; Cobbs, Gary A.; Petras, Robert E.; Galandiuk, Susan

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

Michils, Geneviève; Tejpar, Sabine; Thoelen, Reinhilde; Cutsem, Eric van; Vermeesch, Joris Robert; Fryns, Jean‐Pierre; Legius, Eric; Matthijs, Gert

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Buzin, Carolyn H.; Feng, Jinong; Yan, Jin; Scaringe, William; Liu, Qiang; den Dunnen, Johan; Mendell, Jerry R.; Sommer, Steve S.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study

Levran, Orna; Diotti, Raffaella; Pujara, Kanan; Batish, Sat D.; Hanenberg, Helmut; Auerbach, Arleen D.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

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Human Mutation Volume 25 Issue 2

1 - 10 of 18 articles

Shin, Young‐Kyoung; Heo, Seung‐Chul; Shin, Joo‐Ho; Hong, Sung‐Hye; Ku, Ja‐Lok; Yoo, Byong‐Chul; Kim, Il‐Jin; Park, Jae‐Gahb

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Bassal, Sahar; El‐Osta, Assam

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Chen, Jian‐Min; Chuzhanova, Nadia; Stenson, Peter D.; Férec, Claude; Cooper, David N.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Acquaviva, Cécile; Benoist, Jean‐François; Pereira, Sabrina; Callebaut, Isabelle; Koskas, Thu; Porquet, Dominique; Elion, Jacques

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Montagna, Giorgia; Di Biase, Antonella; Cappa, Marco; Melone, Mariarosa A.B.; Piantadosi, Carlo; Colabianchi, Diego; Patrono, Clarice; Attori, Lucilla; Cannelli, Natalia; Cotrufo, Roberto; Salvati, Serafina; Santorelli, Filippo M.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Chen, Hui‐Ju; Tian, Huijun; Edenberg, Howard J.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Crawford, Nigel P.S.; Colliver, Daniel W.; Funke, Alisa A.; Young, Michael N.; Kelley, Scott; Cobbs, Gary A.; Petras, Robert E.; Galandiuk, Susan

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Michils, Geneviève; Tejpar, Sabine; Thoelen, Reinhilde; Cutsem, Eric van; Vermeesch, Joris Robert; Fryns, Jean‐Pierre; Legius, Eric; Matthijs, Gert

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Buzin, Carolyn H.; Feng, Jinong; Yan, Jin; Scaringe, William; Liu, Qiang; den Dunnen, Johan; Mendell, Jerry R.; Sommer, Steve S.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005

Levran, Orna; Diotti, Raffaella; Pujara, Kanan; Batish, Sat D.; Hanenberg, Helmut; Auerbach, Arleen D.

Follow Human Mutation , Volume 25 (2) Wiley – Feb 1, 2005