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Human Mutation Volume 20 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
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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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Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

Ferraris, Alessandro; Rappaport, Eric; Santacroce, Rosa; Pollak, Eleanor; Krantz, Ian; Toth, Stephen; Lysholm, Frida; Margaglione, Maurizio; Restagno, Gabriella; Dallapiccola, Bruno; Surrey, Saul; Fortina, Paolo

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype–phenotype correlation

Citron, Michael; Godmilow, Lynn; Ganguly, Tapan; Ganguly, Arupa

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Yaron, Yuval; Ben Zeev, Bruria; Shomrat, Ruth; Bercovich, Dani; Naiman, Tova; Orr‐Urtreger, Avi

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Winnepenninckx, Birgitta; Errijgers, Vanessa; Hayez‐Delatte, France; Reyniers, Edwin; Frank Kooy, R.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

Loudianos, G.; Lovicu, M.; Dessi, V.; Tzetis, M.; Kanavakis, E.; Zancan, L.; Zelante, L.; Galvèz‐Galvèz, C.; Cao, A.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

Sale, Michèle M.; Craig, Jamie E.; Charlesworth, Jacinta C.; FitzGerald, Liesel M.; Hanson, Isabel M.; Dickinson, Joanne L.; Matthews, Sarah J.; Heyningen, Veronica van; Fingert, John H.; Mackey, David A.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Hanein, Sylvain; Perrault, Isabelle; Olsen, Päivi; Lopponen, Tuija; Hietala, Marja; Gerber, Sylvie; Jeanpierre, Marc; Barbet, Fabienne; Ducroq, Dominique; Hakiki, Sélim; Munnich, Arnold; Rozet, Jean‐Michel; Kaplan, Josseline

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, Nancy; Chen, Li; Lin, Paul; Obie, Cassandra; Steel, Gary; Douglas, Pamela; Chakraborty, Pranesh K.; Clarke, Joe T.R.; Boneh, Avihu; Moser, Ann; Moser, Hugo; Valle, David

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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One‐Step site‐directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs

Scott, Shaun P.; Teh, Alison; Peng, Cheng; Lavin, Martin F.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002
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Characterization of a novel CYP2A7/CYP2A6 hybrid allele ( CYP2A6*12 ) that causes reduced CYP2A6 activity

Oscarson, Mikael; McLellan, Roman A.; Asp, Vendela; Ledesma, MariCarmen; Ruiz, Maria Luisa Bernal; Sinues, Blanca; Rautio, Arja; Ingelman‐Sundberg, Magnus

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Human Mutation Volume 20 Issue 4

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

Ferraris, Alessandro; Rappaport, Eric; Santacroce, Rosa; Pollak, Eleanor; Krantz, Ian; Toth, Stephen; Lysholm, Frida; Margaglione, Maurizio; Restagno, Gabriella; Dallapiccola, Bruno; Surrey, Saul; Fortina, Paolo

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype–phenotype correlation

Citron, Michael; Godmilow, Lynn; Ganguly, Tapan; Ganguly, Arupa

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Yaron, Yuval; Ben Zeev, Bruria; Shomrat, Ruth; Bercovich, Dani; Naiman, Tova; Orr‐Urtreger, Avi

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Winnepenninckx, Birgitta; Errijgers, Vanessa; Hayez‐Delatte, France; Reyniers, Edwin; Frank Kooy, R.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

Loudianos, G.; Lovicu, M.; Dessi, V.; Tzetis, M.; Kanavakis, E.; Zancan, L.; Zelante, L.; Galvèz‐Galvèz, C.; Cao, A.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

Sale, Michèle M.; Craig, Jamie E.; Charlesworth, Jacinta C.; FitzGerald, Liesel M.; Hanson, Isabel M.; Dickinson, Joanne L.; Matthews, Sarah J.; Heyningen, Veronica van; Fingert, John H.; Mackey, David A.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Hanein, Sylvain; Perrault, Isabelle; Olsen, Päivi; Lopponen, Tuija; Hietala, Marja; Gerber, Sylvie; Jeanpierre, Marc; Barbet, Fabienne; Ducroq, Dominique; Hakiki, Sélim; Munnich, Arnold; Rozet, Jean‐Michel; Kaplan, Josseline

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, Nancy; Chen, Li; Lin, Paul; Obie, Cassandra; Steel, Gary; Douglas, Pamela; Chakraborty, Pranesh K.; Clarke, Joe T.R.; Boneh, Avihu; Moser, Ann; Moser, Hugo; Valle, David

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

One‐Step site‐directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs

Scott, Shaun P.; Teh, Alison; Peng, Cheng; Lavin, Martin F.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Characterization of a novel CYP2A7/CYP2A6 hybrid allele ( CYP2A6*12 ) that causes reduced CYP2A6 activity

Oscarson, Mikael; McLellan, Roman A.; Asp, Vendela; Ledesma, MariCarmen; Ruiz, Maria Luisa Bernal; Sinues, Blanca; Rautio, Arja; Ingelman‐Sundberg, Magnus

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

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Human Mutation Volume 20 Issue 4

1 - 10 of 16 articles

Ferraris, Alessandro; Rappaport, Eric; Santacroce, Rosa; Pollak, Eleanor; Krantz, Ian; Toth, Stephen; Lysholm, Frida; Margaglione, Maurizio; Restagno, Gabriella; Dallapiccola, Bruno; Surrey, Saul; Fortina, Paolo

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Citron, Michael; Godmilow, Lynn; Ganguly, Tapan; Ganguly, Arupa

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Yaron, Yuval; Ben Zeev, Bruria; Shomrat, Ruth; Bercovich, Dani; Naiman, Tova; Orr‐Urtreger, Avi

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Winnepenninckx, Birgitta; Errijgers, Vanessa; Hayez‐Delatte, France; Reyniers, Edwin; Frank Kooy, R.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Loudianos, G.; Lovicu, M.; Dessi, V.; Tzetis, M.; Kanavakis, E.; Zancan, L.; Zelante, L.; Galvèz‐Galvèz, C.; Cao, A.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Sale, Michèle M.; Craig, Jamie E.; Charlesworth, Jacinta C.; FitzGerald, Liesel M.; Hanson, Isabel M.; Dickinson, Joanne L.; Matthews, Sarah J.; Heyningen, Veronica van; Fingert, John H.; Mackey, David A.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Hanein, Sylvain; Perrault, Isabelle; Olsen, Päivi; Lopponen, Tuija; Hietala, Marja; Gerber, Sylvie; Jeanpierre, Marc; Barbet, Fabienne; Ducroq, Dominique; Hakiki, Sélim; Munnich, Arnold; Rozet, Jean‐Michel; Kaplan, Josseline

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Braverman, Nancy; Chen, Li; Lin, Paul; Obie, Cassandra; Steel, Gary; Douglas, Pamela; Chakraborty, Pranesh K.; Clarke, Joe T.R.; Boneh, Avihu; Moser, Ann; Moser, Hugo; Valle, David

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Scott, Shaun P.; Teh, Alison; Peng, Cheng; Lavin, Martin F.

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002

Oscarson, Mikael; McLellan, Roman A.; Asp, Vendela; Ledesma, MariCarmen; Ruiz, Maria Luisa Bernal; Sinues, Blanca; Rautio, Arja; Ingelman‐Sundberg, Magnus

Follow Human Mutation , Volume 20 (4) Wiley – Oct 1, 2002