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Human Mutation Volume 26 Issue 3

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
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1998
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- Volume 11
1997
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1996
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1995
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1994
- Volume 4
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1993
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1992
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PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders

Crane, Denis I.; Maxwell, Megan A.; Paton, Barbara C.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

Ball, Edward V.; Stenson, Peter D.; Abeysinghe, Shaun S.; Krawczak, Michael; Cooper, David N.; Chuzhanova, Nadia A.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms

Maxwell, Megan A.; Leane, Pamela B.; Paton, Barbara C.; Crane, Denis I.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Gaucher mutation N188S is associated with myoclonic epilepsy

Kowarz, Laurence; Goker‐Alpan, Ozlem; Banerjee‐Basu, Sharmila; LaMarca, Mary E.; Kinlaw, Leah; Schiffmann, Raphael; Baxevanis, Andreas D.; Sidransky, Ellen

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex™ whole genome amplified DNA generated from multiple DNA sources

Bergen, Andrew W.; Haque, Kashif A.; Qi, Ying; Beerman, Michael B.; Garcia‐Closas, Montserrat; Rothman, Nathaniel; Chanock, Stephen J.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay‐Sachs disease: detection of fourteen novel alleles

Montalvo, Anna Lisa E.; Filocamo, Mirella; Vlahoviček, Kristian; Dardis, Andrea; Lualdi, Susanna; Corsolini, Fabio; Bembi, Bruno; Pittis, Maria Gabriela

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy

Montfort, Magda; Chabás, Amparo; Vilageliu, Lluïsa; Grinberg, Daniel

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

Miksch, Sara; Lumsden, Amanda; Guenther, Ulf P.; Foernzler, Dorothee; Christen‐Zäch, Stéphanie; Daugherty, Carol; Ramesar, Raj Kumar S.; Lebwohl, Mark; Hohl, Daniel; Neldner, Kenneth H.; Lindpaintner, Klaus; Richards, Robert I.; Struk, Berthold

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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LDL‐receptor mutations in Europe

Genschel, Janine; Dedoussis, George V.Z.; Schmidt, Hartmut H.‐J.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005
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Homozygous microdeletion of chromosome 4q11‐q12 causes severe limb‐girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

Kaindl, Angela M.; Jakubiczka, Sibylle; Lücke, Thomas; Bartsch, Oliver; Weis, Joachim; Stoltenburg‐Didinger, Gisela; Aksu, Fuat; Oexle, Konrad; Koehler, Katrin; Huebner, Angela

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Human Mutation Volume 26 Issue 3

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders

Crane, Denis I.; Maxwell, Megan A.; Paton, Barbara C.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

Ball, Edward V.; Stenson, Peter D.; Abeysinghe, Shaun S.; Krawczak, Michael; Cooper, David N.; Chuzhanova, Nadia A.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms

Maxwell, Megan A.; Leane, Pamela B.; Paton, Barbara C.; Crane, Denis I.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Gaucher mutation N188S is associated with myoclonic epilepsy

Kowarz, Laurence; Goker‐Alpan, Ozlem; Banerjee‐Basu, Sharmila; LaMarca, Mary E.; Kinlaw, Leah; Schiffmann, Raphael; Baxevanis, Andreas D.; Sidransky, Ellen

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex™ whole genome amplified DNA generated from multiple DNA sources

Bergen, Andrew W.; Haque, Kashif A.; Qi, Ying; Beerman, Michael B.; Garcia‐Closas, Montserrat; Rothman, Nathaniel; Chanock, Stephen J.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay‐Sachs disease: detection of fourteen novel alleles

Montalvo, Anna Lisa E.; Filocamo, Mirella; Vlahoviček, Kristian; Dardis, Andrea; Lualdi, Susanna; Corsolini, Fabio; Bembi, Bruno; Pittis, Maria Gabriela

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy

Montfort, Magda; Chabás, Amparo; Vilageliu, Lluïsa; Grinberg, Daniel

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

Miksch, Sara; Lumsden, Amanda; Guenther, Ulf P.; Foernzler, Dorothee; Christen‐Zäch, Stéphanie; Daugherty, Carol; Ramesar, Raj Kumar S.; Lebwohl, Mark; Hohl, Daniel; Neldner, Kenneth H.; Lindpaintner, Klaus; Richards, Robert I.; Struk, Berthold

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

LDL‐receptor mutations in Europe

Genschel, Janine; Dedoussis, George V.Z.; Schmidt, Hartmut H.‐J.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Homozygous microdeletion of chromosome 4q11‐q12 causes severe limb‐girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

Kaindl, Angela M.; Jakubiczka, Sibylle; Lücke, Thomas; Bartsch, Oliver; Weis, Joachim; Stoltenburg‐Didinger, Gisela; Aksu, Fuat; Oexle, Konrad; Koehler, Katrin; Huebner, Angela

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

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Human Mutation Volume 26 Issue 3

1 - 10 of 28 articles

Crane, Denis I.; Maxwell, Megan A.; Paton, Barbara C.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Ball, Edward V.; Stenson, Peter D.; Abeysinghe, Shaun S.; Krawczak, Michael; Cooper, David N.; Chuzhanova, Nadia A.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Maxwell, Megan A.; Leane, Pamela B.; Paton, Barbara C.; Crane, Denis I.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Kowarz, Laurence; Goker‐Alpan, Ozlem; Banerjee‐Basu, Sharmila; LaMarca, Mary E.; Kinlaw, Leah; Schiffmann, Raphael; Baxevanis, Andreas D.; Sidransky, Ellen

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Bergen, Andrew W.; Haque, Kashif A.; Qi, Ying; Beerman, Michael B.; Garcia‐Closas, Montserrat; Rothman, Nathaniel; Chanock, Stephen J.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Montalvo, Anna Lisa E.; Filocamo, Mirella; Vlahoviček, Kristian; Dardis, Andrea; Lualdi, Susanna; Corsolini, Fabio; Bembi, Bruno; Pittis, Maria Gabriela

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Montfort, Magda; Chabás, Amparo; Vilageliu, Lluïsa; Grinberg, Daniel

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Miksch, Sara; Lumsden, Amanda; Guenther, Ulf P.; Foernzler, Dorothee; Christen‐Zäch, Stéphanie; Daugherty, Carol; Ramesar, Raj Kumar S.; Lebwohl, Mark; Hohl, Daniel; Neldner, Kenneth H.; Lindpaintner, Klaus; Richards, Robert I.; Struk, Berthold

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Genschel, Janine; Dedoussis, George V.Z.; Schmidt, Hartmut H.‐J.

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005

Kaindl, Angela M.; Jakubiczka, Sibylle; Lücke, Thomas; Bartsch, Oliver; Weis, Joachim; Stoltenburg‐Didinger, Gisela; Aksu, Fuat; Oexle, Konrad; Koehler, Katrin; Huebner, Angela

Follow Human Mutation , Volume 26 (3) Wiley – Sep 1, 2005