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Human Mutation Volume 18 Issue 5

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
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1993
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1992
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Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

Salvi, S.; Dionisi‐Vici, C.; Bertini, E.; Verardo, M.; Santorelli, F.M.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Missense mutations of human homeoboxes: A review

D’Elia, Angela V.; Tell, Gianluca; Paron, Igor; Pellizzari, Lucia; Lonigro, Renata; Damante, Giuseppe

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32‐q41

Watanabe, Yoriko; Murray, Jeffrey C.; Bjork, Bryan C.; Bird, Christine P.; Chiang, P.‐W.; Gregory, Simon G.; Kurnit, David M.; Schutte, Brian C.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Larsen, Lars Allan; Johnson, Martin; Brown, Candia; Christiansen, Michael; Frank‐Hansen, Rune; Vuust, Jens; Andersen, Paal Skytt

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Mutations in BTD causing biotinidase deficiency

Hymes, Jeanne; Stanley, Christine M.; Wolf, Barry

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Variability of the CD36 gene in West Africa

Gelhaus, Annette; Scheding, Andreas; Browne, Edmund; Burchard, Gerd D.; Horstmann, Rolf D.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Twenty‐two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

Hamlington, Jeanette D.; Jones, Cheron; McIntosh, Iain

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Go!Poly: A gene‐oriented polymorphism database

Zhang, Ge; Zhang, Sizhong; Chen, Wei; Qiu, Weimin; Wu, Hui; Wang, Jianmin; Luo, Jingchu; Gu, Xiaocheng; Cotton, Richard G.H.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz‐Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform ( STK11 c.597 ⁁ 598insIVS4)

Abed, Abdalla A.; Günther, Klaus; Kraus, Cornelia; Hohenberger, Werner; Ballhausen, Wolfgang G.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001
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Fabry disease: 20 novel GLA mutations in 35 families

Blaydon, Diana; Hill, Jane; Winchester, Bryan

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Human Mutation Volume 18 Issue 5

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

Salvi, S.; Dionisi‐Vici, C.; Bertini, E.; Verardo, M.; Santorelli, F.M.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Missense mutations of human homeoboxes: A review

D’Elia, Angela V.; Tell, Gianluca; Paron, Igor; Pellizzari, Lucia; Lonigro, Renata; Damante, Giuseppe

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32‐q41

Watanabe, Yoriko; Murray, Jeffrey C.; Bjork, Bryan C.; Bird, Christine P.; Chiang, P.‐W.; Gregory, Simon G.; Kurnit, David M.; Schutte, Brian C.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Larsen, Lars Allan; Johnson, Martin; Brown, Candia; Christiansen, Michael; Frank‐Hansen, Rune; Vuust, Jens; Andersen, Paal Skytt

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Mutations in BTD causing biotinidase deficiency

Hymes, Jeanne; Stanley, Christine M.; Wolf, Barry

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Variability of the CD36 gene in West Africa

Gelhaus, Annette; Scheding, Andreas; Browne, Edmund; Burchard, Gerd D.; Horstmann, Rolf D.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Twenty‐two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

Hamlington, Jeanette D.; Jones, Cheron; McIntosh, Iain

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Go!Poly: A gene‐oriented polymorphism database

Zhang, Ge; Zhang, Sizhong; Chen, Wei; Qiu, Weimin; Wu, Hui; Wang, Jianmin; Luo, Jingchu; Gu, Xiaocheng; Cotton, Richard G.H.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz‐Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform ( STK11 c.597 ⁁ 598insIVS4)

Abed, Abdalla A.; Günther, Klaus; Kraus, Cornelia; Hohenberger, Werner; Ballhausen, Wolfgang G.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Fabry disease: 20 novel GLA mutations in 35 families

Blaydon, Diana; Hill, Jane; Winchester, Bryan

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

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Human Mutation Volume 18 Issue 5

1 - 10 of 16 articles

Salvi, S.; Dionisi‐Vici, C.; Bertini, E.; Verardo, M.; Santorelli, F.M.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

D’Elia, Angela V.; Tell, Gianluca; Paron, Igor; Pellizzari, Lucia; Lonigro, Renata; Damante, Giuseppe

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Watanabe, Yoriko; Murray, Jeffrey C.; Bjork, Bryan C.; Bird, Christine P.; Chiang, P.‐W.; Gregory, Simon G.; Kurnit, David M.; Schutte, Brian C.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Larsen, Lars Allan; Johnson, Martin; Brown, Candia; Christiansen, Michael; Frank‐Hansen, Rune; Vuust, Jens; Andersen, Paal Skytt

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Hymes, Jeanne; Stanley, Christine M.; Wolf, Barry

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Gelhaus, Annette; Scheding, Andreas; Browne, Edmund; Burchard, Gerd D.; Horstmann, Rolf D.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Hamlington, Jeanette D.; Jones, Cheron; McIntosh, Iain

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Zhang, Ge; Zhang, Sizhong; Chen, Wei; Qiu, Weimin; Wu, Hui; Wang, Jianmin; Luo, Jingchu; Gu, Xiaocheng; Cotton, Richard G.H.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Abed, Abdalla A.; Günther, Klaus; Kraus, Cornelia; Hohenberger, Werner; Ballhausen, Wolfgang G.

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001

Blaydon, Diana; Hill, Jane; Winchester, Bryan

Follow Human Mutation , Volume 18 (5) Wiley – Nov 1, 2001