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Human Mutation Volume 20 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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Large‐scale determination of SNP allele frequencies in DNA pools using MALDI‐TOF mass spectrometry

Werner, Monika; Sych, Michael; Herbon, Nicole; Illig, Thomas; König, Inke R.; Wjst, Matthias

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome

Zhang, Y.; Hart, P.S.; Moretti, A.J.; Bouwsma, O.J.; Fisher, E.M.; Dudlicek, L.; Pettenati, M.J.; Hart, T.C.

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Familial conformational diseases and dementias

Crowther, Damian C.

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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BRCA1 and BRCA2 mutations in Turkish familial and non‐familial ovarian cancer patients: a high incidence of mutations in non‐familial cases

Yazici, Hulya; Glendon, Gordon; Yazici, Hilal; Burnie, Steve J.; Saip, Pánar; Buyru, Faruk; Bengisu, Ergin; Andrulis, Irene L.; Dalay, Nejat; Ozcelik, Hilmi

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non‐syndromic hearing impairment

Kupka, Susan; Braun, Simone; Aberle, Susanne; Haack, Birgit; Ebauer, Margret; Zeißler, Ulrike; Zenner, Hans‐Peter; Blin, Nikolaus; Pfister, Markus

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na‐Cl Co‐transporter in Italian patients with Gitelman syndrome

Syrén, Marie‐Louise; Tedeschi, Silvana; Cesareo, Laila; Bellantuono, Rosa; Colussi, Giacomo; Procaccio, Mirella; Alì, Anna; Domenici, Raffaele; Malberti, Fabio; Sprocati, Monica; Sacco, Michele; Miglietti, Nunzia; Edefonti, Alberto; Sereni, Fabio; Casari, Giorgio; Coviello, Domenico A.; Bettinelli, Alberto

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Carbone, Mary Anna; Applegarth, Derek A.; Robinson, Brian H.

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

Wautot, Virginie; Vercherat, Cécile; Lespinasse, James; Chambe, Béatrice; Lenoir, Gilbert M.; Zhang, Chang X.; Porchet, Nicole; Cordier, Martine; Béroud, Christophe; Calender, Alain

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

López‐Bigas, N.; Melchionda, S.; de Cid, R.; Grifa, A.; Zelante, L.; Govea, N.; Arbonés, M.L.; Gasparini, P.; Estivill, X.

Follow Human Mutation , Volume 20 (1) Wiley – Jul 1, 2002
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Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

Johnson, Jean L.; Coyne, Katharine E.; Garrett, Robert M.; Zabot, Marie‐Therese; Dorche, Claude; Kisker, Caroline; Rajagopalan, K. V.

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

Human Mutation Volume 20 Issue 1

Large‐scale determination of SNP allele frequencies in DNA pools using MALDI‐TOF mass spectrometry

Werner, Monika; Sych, Michael; Herbon, Nicole; Illig, Thomas; König, Inke R.; Wjst, Matthias

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

Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome

Zhang, Y.; Hart, P.S.; Moretti, A.J.; Bouwsma, O.J.; Fisher, E.M.; Dudlicek, L.; Pettenati, M.J.; Hart, T.C.

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

Familial conformational diseases and dementias

Crowther, Damian C.

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

BRCA1 and BRCA2 mutations in Turkish familial and non‐familial ovarian cancer patients: a high incidence of mutations in non‐familial cases

Yazici, Hulya; Glendon, Gordon; Yazici, Hilal; Burnie, Steve J.; Saip, Pánar; Buyru, Faruk; Bengisu, Ergin; Andrulis, Irene L.; Dalay, Nejat; Ozcelik, Hilmi

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

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non‐syndromic hearing impairment

Kupka, Susan; Braun, Simone; Aberle, Susanne; Haack, Birgit; Ebauer, Margret; Zeißler, Ulrike; Zenner, Hans‐Peter; Blin, Nikolaus; Pfister, Markus

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

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na‐Cl Co‐transporter in Italian patients with Gitelman syndrome

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

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Carbone, Mary Anna; Applegarth, Derek A.; Robinson, Brian H.

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

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

Wautot, Virginie; Vercherat, Cécile; Lespinasse, James; Chambe, Béatrice; Lenoir, Gilbert M.; Zhang, Chang X.; Porchet, Nicole; Cordier, Martine; Béroud, Christophe; Calender, Alain

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

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

López‐Bigas, N.; Melchionda, S.; de Cid, R.; Grifa, A.; Zelante, L.; Govea, N.; Arbonés, M.L.; Gasparini, P.; Estivill, X.

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

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

Johnson, Jean L.; Coyne, Katharine E.; Garrett, Robert M.; Zabot, Marie‐Therese; Dorche, Claude; Kisker, Caroline; Rajagopalan, K. V.

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

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Human Mutation Volume 20 Issue 1

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Werner, Monika; Sych, Michael; Herbon, Nicole; Illig, Thomas; König, Inke R.; Wjst, Matthias

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

Zhang, Y.; Hart, P.S.; Moretti, A.J.; Bouwsma, O.J.; Fisher, E.M.; Dudlicek, L.; Pettenati, M.J.; Hart, T.C.

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

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

Yazici, Hulya; Glendon, Gordon; Yazici, Hilal; Burnie, Steve J.; Saip, Pánar; Buyru, Faruk; Bengisu, Ergin; Andrulis, Irene L.; Dalay, Nejat; Ozcelik, Hilmi

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

Kupka, Susan; Braun, Simone; Aberle, Susanne; Haack, Birgit; Ebauer, Margret; Zeißler, Ulrike; Zenner, Hans‐Peter; Blin, Nikolaus; Pfister, Markus

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

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

Carbone, Mary Anna; Applegarth, Derek A.; Robinson, Brian H.

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

Wautot, Virginie; Vercherat, Cécile; Lespinasse, James; Chambe, Béatrice; Lenoir, Gilbert M.; Zhang, Chang X.; Porchet, Nicole; Cordier, Martine; Béroud, Christophe; Calender, Alain

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

López‐Bigas, N.; Melchionda, S.; de Cid, R.; Grifa, A.; Zelante, L.; Govea, N.; Arbonés, M.L.; Gasparini, P.; Estivill, X.

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

Johnson, Jean L.; Coyne, Katharine E.; Garrett, Robert M.; Zabot, Marie‐Therese; Dorche, Claude; Kisker, Caroline; Rajagopalan, K. V.

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