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Human Mutation Volume 26 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
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
- Volume 2
1992
- Volume 1

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Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri‐Weill dyschondrosteosis

Schneider, Katja U.; Marchini, Antonio; Sabherwal, Nitin; Röth, Ralph; Niesler, Beate; Marttila, Tiina; Blaschke, Rüdiger J.; Lawson, Margaret; Dumic, Miroslav; Rappold, Gudrun

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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InSNP: A tool for automated detection and visualization of SNPs and InDels

Manaster, Carl; Zheng, Weiyue; Teuber, Markus; Wächter, Stefan; Döring, Frank; Schreiber, Stefan; Hampe, Jochen

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

Nagel, Mato; Nagorka, Sylvia; Gross, Oliver

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Mutation analysis of the GJB2 (Connexin 26) gene in Egypt

Snoeckx, Rikkert L.; Hassan, Dalia M.; Kamal, Nadia M.; Van Den Bogaert, Kris; Van Camp, Guy

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Identification of nine novel DHCR7 missense mutations in patients with Smith‐Lemli‐Opitz syndrome (SLOS)

Waye, John S.; Krakowiak, Patrycja A.; Wassif, Christopher A.; Sterner, Allison L.; Eng, Barry; Nakamura, Lisa M.; Nowaczyk, Małgorzata J.M.; Porter, Forbes D.

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Erratum: Sodium channel gene ( SCN5A ) mutations in 44 index patients with brugada syndrome: Different incidences in familial and sporadic disease

Schulze‐Bahr, Eric; Eckardt, Lars; Breithardt, Günter; Seidl, Karlheinz; Wichter, Thomas; Wolpert, Christian; Borggrefe, Martin; Haverkamp, Wilhelm

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Determination of variants in the 3′‐region of the Tyrosinase gene requires locus specific amplification

Chaki, Moumita; Mukhopadhyay, Arijit; Ray, Kunal

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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TNF polymorphisms in Alzheimer disease and functional implications on CSF beta‐amyloid levels

Laws, Simon M.; Perneczky, Robert; Wagenpfeil, Stefan; Müller, Ulrich; Förstl, Hans; Martins, Ralph N.; Kurz, Alexander; Riemenschneider, Matthias

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Niemann‐Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

Chikh, Karim; Rodriguez, Céline; Vey, Sébastien; Vanier, Marie T.; Millat, Gilles

Follow Human Mutation , Volume 26 (1) Wiley – Jul 1, 2005
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Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression

Tang, Nelson L.S.; Zhang, Weimin; Grabowski, G.A.; To, K.F.; Choy, Francis Y.M.; Ma, S.L.; Shi, H.P.

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

Human Mutation Volume 26 Issue 1

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri‐Weill dyschondrosteosis

Schneider, Katja U.; Marchini, Antonio; Sabherwal, Nitin; Röth, Ralph; Niesler, Beate; Marttila, Tiina; Blaschke, Rüdiger J.; Lawson, Margaret; Dumic, Miroslav; Rappold, Gudrun

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

InSNP: A tool for automated detection and visualization of SNPs and InDels

Manaster, Carl; Zheng, Weiyue; Teuber, Markus; Wächter, Stefan; Döring, Frank; Schreiber, Stefan; Hampe, Jochen

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

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

Nagel, Mato; Nagorka, Sylvia; Gross, Oliver

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

Mutation analysis of the GJB2 (Connexin 26) gene in Egypt

Snoeckx, Rikkert L.; Hassan, Dalia M.; Kamal, Nadia M.; Van Den Bogaert, Kris; Van Camp, Guy

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

Identification of nine novel DHCR7 missense mutations in patients with Smith‐Lemli‐Opitz syndrome (SLOS)

Waye, John S.; Krakowiak, Patrycja A.; Wassif, Christopher A.; Sterner, Allison L.; Eng, Barry; Nakamura, Lisa M.; Nowaczyk, Małgorzata J.M.; Porter, Forbes D.

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

Erratum: Sodium channel gene ( SCN5A ) mutations in 44 index patients with brugada syndrome: Different incidences in familial and sporadic disease

Schulze‐Bahr, Eric; Eckardt, Lars; Breithardt, Günter; Seidl, Karlheinz; Wichter, Thomas; Wolpert, Christian; Borggrefe, Martin; Haverkamp, Wilhelm

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

Determination of variants in the 3′‐region of the Tyrosinase gene requires locus specific amplification

Chaki, Moumita; Mukhopadhyay, Arijit; Ray, Kunal

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

TNF polymorphisms in Alzheimer disease and functional implications on CSF beta‐amyloid levels

Laws, Simon M.; Perneczky, Robert; Wagenpfeil, Stefan; Müller, Ulrich; Förstl, Hans; Martins, Ralph N.; Kurz, Alexander; Riemenschneider, Matthias

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

Niemann‐Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

Chikh, Karim; Rodriguez, Céline; Vey, Sébastien; Vanier, Marie T.; Millat, Gilles

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

Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression

Tang, Nelson L.S.; Zhang, Weimin; Grabowski, G.A.; To, K.F.; Choy, Francis Y.M.; Ma, S.L.; Shi, H.P.

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

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Human Mutation Volume 26 Issue 1

1 - 10 of 13 articles

Schneider, Katja U.; Marchini, Antonio; Sabherwal, Nitin; Röth, Ralph; Niesler, Beate; Marttila, Tiina; Blaschke, Rüdiger J.; Lawson, Margaret; Dumic, Miroslav; Rappold, Gudrun

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

Manaster, Carl; Zheng, Weiyue; Teuber, Markus; Wächter, Stefan; Döring, Frank; Schreiber, Stefan; Hampe, Jochen

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

Nagel, Mato; Nagorka, Sylvia; Gross, Oliver

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

Snoeckx, Rikkert L.; Hassan, Dalia M.; Kamal, Nadia M.; Van Den Bogaert, Kris; Van Camp, Guy

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

Waye, John S.; Krakowiak, Patrycja A.; Wassif, Christopher A.; Sterner, Allison L.; Eng, Barry; Nakamura, Lisa M.; Nowaczyk, Małgorzata J.M.; Porter, Forbes D.

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

Schulze‐Bahr, Eric; Eckardt, Lars; Breithardt, Günter; Seidl, Karlheinz; Wichter, Thomas; Wolpert, Christian; Borggrefe, Martin; Haverkamp, Wilhelm

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

Chaki, Moumita; Mukhopadhyay, Arijit; Ray, Kunal

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

Laws, Simon M.; Perneczky, Robert; Wagenpfeil, Stefan; Müller, Ulrich; Förstl, Hans; Martins, Ralph N.; Kurz, Alexander; Riemenschneider, Matthias

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

Chikh, Karim; Rodriguez, Céline; Vey, Sébastien; Vanier, Marie T.; Millat, Gilles

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

Tang, Nelson L.S.; Zhang, Weimin; Grabowski, G.A.; To, K.F.; Choy, Francis Y.M.; Ma, S.L.; Shi, H.P.

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