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Human Mutation Volume 27 Issue 4

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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Apolipoprotein (APOE) gene is associated with progression of age‐related macular degeneration (AMD)

Baird, Paul N.; Richardson, Andrea J.; Robman, Luba D.; Dimitrov, Peter N.; Tikellis, Gabriella; McCarty, Catherine A.; Guymer, Robyn H.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Present status of outcome prediction of invasive coronary treatment by using genetic markers

Völzke, Henry; Rettig, Rainer

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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A second‐site mutation in the initiation codon of WAS ( WASP ) results in expansion of subsets of lymphocytes in an Wiskott‐Aldrich syndrome patient

Du, Wei; Kumaki, Satoru; Uchiyama, Toru; Yachie, Akihiro; Yeng Looi, Chung; Kawai, Shin; Minegishi, Masayoshi; Ramesh, Narayanaswamy; Geha, Raif S.; Sasahara, Yoji; Tsuchiya, Shigeru

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Trafficking‐competent and trafficking‐defective KCNJ2 mutations in Andersen syndrome

Ballester, Leomar Y.; Benson, D. Woodrow; Wong, Brenda; Law, Ian H.; Mathews, Katherine D.; Vanoye, Carlos G.; George, Alfred L.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene

Baser, Michael E.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity

Peyvandi, Flora; Lavoretano, Silvia; Palla, Roberta; Valsecchi, Carla; Merati, Giuliana; De Cristofaro, Raimondo; Rossi, Edoardo; Mannuccio Mannucci, Pier

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation

Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean‐Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans‐Hilger; Kuss, Andreas; Jensen, Lars Riff

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure–function correlations of α IIb β 3 integrin ( ITGA2B, ITGB3 )

Peretz, Hava; Rosenberg, Nurit; Landau, Meytal; Usher, Saly; Nelson, Everette J.R.; Mor‐Cohen, Ronit; French, Deborah L.; Mitchell, Beau W.; Nair, Sukesh C.; Chandy, Mammen; Coller, Barry S.; Srivastava, Alok; Seligsohn, Uri

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Determination of genomic copy number with quantitative microsphere hybridization

Newkirk, Heather L.; Rogan, Peter K.; Miralles, Mauricio; Knoll, Joan H.M.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006
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Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

Depienne, Christel; Arzimanoglou, Alexis; Trouillard, Oriane; Fedirko, Estelle; Baulac, Stéphanie; Saint‐Martin, Cécile; Ruberg, Merle; Dravet, Charlotte; Nabbout, Rima; Baulac, Michel; Gourfinkel‐An, Isabelle; Leguern, Eric

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Human Mutation Volume 27 Issue 4

Apolipoprotein (APOE) gene is associated with progression of age‐related macular degeneration (AMD)

Baird, Paul N.; Richardson, Andrea J.; Robman, Luba D.; Dimitrov, Peter N.; Tikellis, Gabriella; McCarty, Catherine A.; Guymer, Robyn H.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Present status of outcome prediction of invasive coronary treatment by using genetic markers

Völzke, Henry; Rettig, Rainer

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

A second‐site mutation in the initiation codon of WAS ( WASP ) results in expansion of subsets of lymphocytes in an Wiskott‐Aldrich syndrome patient

Du, Wei; Kumaki, Satoru; Uchiyama, Toru; Yachie, Akihiro; Yeng Looi, Chung; Kawai, Shin; Minegishi, Masayoshi; Ramesh, Narayanaswamy; Geha, Raif S.; Sasahara, Yoji; Tsuchiya, Shigeru

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Trafficking‐competent and trafficking‐defective KCNJ2 mutations in Andersen syndrome

Ballester, Leomar Y.; Benson, D. Woodrow; Wong, Brenda; Law, Ian H.; Mathews, Katherine D.; Vanoye, Carlos G.; George, Alfred L.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene

Baser, Michael E.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity

Peyvandi, Flora; Lavoretano, Silvia; Palla, Roberta; Valsecchi, Carla; Merati, Giuliana; De Cristofaro, Raimondo; Rossi, Edoardo; Mannuccio Mannucci, Pier

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation

Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean‐Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans‐Hilger; Kuss, Andreas; Jensen, Lars Riff

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure–function correlations of α IIb β 3 integrin ( ITGA2B, ITGB3 )

Peretz, Hava; Rosenberg, Nurit; Landau, Meytal; Usher, Saly; Nelson, Everette J.R.; Mor‐Cohen, Ronit; French, Deborah L.; Mitchell, Beau W.; Nair, Sukesh C.; Chandy, Mammen; Coller, Barry S.; Srivastava, Alok; Seligsohn, Uri

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Determination of genomic copy number with quantitative microsphere hybridization

Newkirk, Heather L.; Rogan, Peter K.; Miralles, Mauricio; Knoll, Joan H.M.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

Depienne, Christel; Arzimanoglou, Alexis; Trouillard, Oriane; Fedirko, Estelle; Baulac, Stéphanie; Saint‐Martin, Cécile; Ruberg, Merle; Dravet, Charlotte; Nabbout, Rima; Baulac, Michel; Gourfinkel‐An, Isabelle; Leguern, Eric

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

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Human Mutation Volume 27 Issue 4

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Baird, Paul N.; Richardson, Andrea J.; Robman, Luba D.; Dimitrov, Peter N.; Tikellis, Gabriella; McCarty, Catherine A.; Guymer, Robyn H.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Völzke, Henry; Rettig, Rainer

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Du, Wei; Kumaki, Satoru; Uchiyama, Toru; Yachie, Akihiro; Yeng Looi, Chung; Kawai, Shin; Minegishi, Masayoshi; Ramesh, Narayanaswamy; Geha, Raif S.; Sasahara, Yoji; Tsuchiya, Shigeru

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Ballester, Leomar Y.; Benson, D. Woodrow; Wong, Brenda; Law, Ian H.; Mathews, Katherine D.; Vanoye, Carlos G.; George, Alfred L.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Peyvandi, Flora; Lavoretano, Silvia; Palla, Roberta; Valsecchi, Carla; Merati, Giuliana; De Cristofaro, Raimondo; Rossi, Edoardo; Mannuccio Mannucci, Pier

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean‐Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans‐Hilger; Kuss, Andreas; Jensen, Lars Riff

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Peretz, Hava; Rosenberg, Nurit; Landau, Meytal; Usher, Saly; Nelson, Everette J.R.; Mor‐Cohen, Ronit; French, Deborah L.; Mitchell, Beau W.; Nair, Sukesh C.; Chandy, Mammen; Coller, Barry S.; Srivastava, Alok; Seligsohn, Uri

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Newkirk, Heather L.; Rogan, Peter K.; Miralles, Mauricio; Knoll, Joan H.M.

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006

Depienne, Christel; Arzimanoglou, Alexis; Trouillard, Oriane; Fedirko, Estelle; Baulac, Stéphanie; Saint‐Martin, Cécile; Ruberg, Merle; Dravet, Charlotte; Nabbout, Rima; Baulac, Michel; Gourfinkel‐An, Isabelle; Leguern, Eric

Follow Human Mutation , Volume 27 (4) Wiley – Apr 1, 2006