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Human Mutation Volume 10 Issue 6

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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The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations

Martorell, Lourdes; Pujana, Miguel Angel; Volpini, Victor; Sanchez, Aurora; Joven, Jorge; Vilella, Elisabet; Estivill, Xavier

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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More Like This OQjQJ7sj3V Rentable

Two mutated HEXA alleles in a Druze patient with late‐infantile Tay‐Sachs disease

Drucker, Liat; Hemli, Jesaiachu Armand; Navon, Ruth

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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More Like This xtWMpS0Pkj Rentable

Molecular basis of heat labile hexosaminidase B among Jews and Arabs

Narkis, Ginat; Adam, Avinoam; Jaber, Lutfi; Pennybacker, Mark; Proia, Richard L.; Navon, Ruth

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Bunge, Susanna; Ince, Hüseyin; Steglich, Cordula; Kleijer, Wim J.; Beck, Michael; Zaremba, Jacek; van Diggelen, Otto P.; Weber, Birgit; Hopwood, John J.; Gal, Andreas

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas

Yin, Jing; Kong, Dehe; Wang, Suna; Zou, Tong‐Tong; Souza, Rhonda F.; Smolinski, Kara N.; Lynch, Patrick M.; Hamilton, Stanley R.; Sugimura, Haruhiko; Powell, Steven M.; Young, Joanne; Abraham, John M.; Meltzer, Stephen J.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Fibrillin‐1 mutations in Marfan syndrome and other type‐1 fibrillinopathies

Hayward, Caroline; Brock, David J. H.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Giovannone, Barbara; Sabbadini, Guglielmo; Di Maio, Luigi; Calabrese, Olga; Castaldo, Imma; Frontali, Marina; Novelletto, Andrea; Squitieri, Ferdinando

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Cystic fibrosis mutation frequencies in upstate New York

Shrimpton, Antony E.; Borowitz, Drucy; Swender, Phillip

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy

Mailly, France; Palmen, Jutta; Muller, David P. R.; Gibbs, Tracy; Lloyd, June; Brunzell, John; Durrington, Paul; Mitropoulos, Kostas; Betteridge, John; Watts, Gerald; Lithell, Hans; Angelico, Franco; Humphries, Steve E.; Talmud, Philippa J.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997
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Charcot‐Marie‐Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

Rouger, H; LeGuern, E; Birouk, N; Gouider, R; Tardieu, S; Plassart, E; Gugenheim, M; Vallat, J‐M; Louboutin, J‐P; Bouche, P; Agid, Y; Brice, A

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Human Mutation Volume 10 Issue 6

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations

Martorell, Lourdes; Pujana, Miguel Angel; Volpini, Victor; Sanchez, Aurora; Joven, Jorge; Vilella, Elisabet; Estivill, Xavier

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Two mutated HEXA alleles in a Druze patient with late‐infantile Tay‐Sachs disease

Drucker, Liat; Hemli, Jesaiachu Armand; Navon, Ruth

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Molecular basis of heat labile hexosaminidase B among Jews and Arabs

Narkis, Ginat; Adam, Avinoam; Jaber, Lutfi; Pennybacker, Mark; Proia, Richard L.; Navon, Ruth

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

Bunge, Susanna; Ince, Hüseyin; Steglich, Cordula; Kleijer, Wim J.; Beck, Michael; Zaremba, Jacek; van Diggelen, Otto P.; Weber, Birgit; Hopwood, John J.; Gal, Andreas

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Mutation of hMSH3 and hMSH6 mismatch repair genes in genetically unstable human colorectal and gastric carcinomas

Yin, Jing; Kong, Dehe; Wang, Suna; Zou, Tong‐Tong; Souza, Rhonda F.; Smolinski, Kara N.; Lynch, Patrick M.; Hamilton, Stanley R.; Sugimura, Haruhiko; Powell, Steven M.; Young, Joanne; Abraham, John M.; Meltzer, Stephen J.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Fibrillin‐1 mutations in Marfan syndrome and other type‐1 fibrillinopathies

Hayward, Caroline; Brock, David J. H.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

Giovannone, Barbara; Sabbadini, Guglielmo; Di Maio, Luigi; Calabrese, Olga; Castaldo, Imma; Frontali, Marina; Novelletto, Andrea; Squitieri, Ferdinando

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Cystic fibrosis mutation frequencies in upstate New York

Shrimpton, Antony E.; Borowitz, Drucy; Swender, Phillip

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy

Mailly, France; Palmen, Jutta; Muller, David P. R.; Gibbs, Tracy; Lloyd, June; Brunzell, John; Durrington, Paul; Mitropoulos, Kostas; Betteridge, John; Watts, Gerald; Lithell, Hans; Angelico, Franco; Humphries, Steve E.; Talmud, Philippa J.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Charcot‐Marie‐Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

Rouger, H; LeGuern, E; Birouk, N; Gouider, R; Tardieu, S; Plassart, E; Gugenheim, M; Vallat, J‐M; Louboutin, J‐P; Bouche, P; Agid, Y; Brice, A

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

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Human Mutation Volume 10 Issue 6

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Martorell, Lourdes; Pujana, Miguel Angel; Volpini, Victor; Sanchez, Aurora; Joven, Jorge; Vilella, Elisabet; Estivill, Xavier

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Drucker, Liat; Hemli, Jesaiachu Armand; Navon, Ruth

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Narkis, Ginat; Adam, Avinoam; Jaber, Lutfi; Pennybacker, Mark; Proia, Richard L.; Navon, Ruth

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Bunge, Susanna; Ince, Hüseyin; Steglich, Cordula; Kleijer, Wim J.; Beck, Michael; Zaremba, Jacek; van Diggelen, Otto P.; Weber, Birgit; Hopwood, John J.; Gal, Andreas

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Yin, Jing; Kong, Dehe; Wang, Suna; Zou, Tong‐Tong; Souza, Rhonda F.; Smolinski, Kara N.; Lynch, Patrick M.; Hamilton, Stanley R.; Sugimura, Haruhiko; Powell, Steven M.; Young, Joanne; Abraham, John M.; Meltzer, Stephen J.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Hayward, Caroline; Brock, David J. H.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Giovannone, Barbara; Sabbadini, Guglielmo; Di Maio, Luigi; Calabrese, Olga; Castaldo, Imma; Frontali, Marina; Novelletto, Andrea; Squitieri, Ferdinando

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Shrimpton, Antony E.; Borowitz, Drucy; Swender, Phillip

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Mailly, France; Palmen, Jutta; Muller, David P. R.; Gibbs, Tracy; Lloyd, June; Brunzell, John; Durrington, Paul; Mitropoulos, Kostas; Betteridge, John; Watts, Gerald; Lithell, Hans; Angelico, Franco; Humphries, Steve E.; Talmud, Philippa J.

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997

Rouger, H; LeGuern, E; Birouk, N; Gouider, R; Tardieu, S; Plassart, E; Gugenheim, M; Vallat, J‐M; Louboutin, J‐P; Bouche, P; Agid, Y; Brice, A

Follow Human Mutation , Volume 10 (6) Wiley – Jan 1, 1997