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Human Mutation Volume 26 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
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1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
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1992
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Identification of 29 novel and nine recurrent fibrillin‐1 ( FBN1 ) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome

Rommel, Kathrin; Karck, Matthias; Haverich, Axel; von Kodolitsch, Yskert; Rybczynski, Meike; Müller, Götz; Singh, Krishna K.; Schmidtke, Jörg; Arslan‐Kirchner, Mine

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005
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Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Tomatsu, Shunji; Montaño, Adriana M.; Nishioka, Tatsuo; Gutierrez, Monica A.; Peña, Olga M.; Tranda firescu, Georgeta G.; Lopez, Patricia; Yamaguchi, Seiji; Noguchi, Akihiko; Orii, Tadao

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005
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Toward a Human Variome Project

Cotton, Richard G.H.; Kazazian, Haig H.

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Erratum: A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T

Hempen, Paula M.; Kurpad, Harsha; Calhoun, Eric S.; Abraham, Susan; Kern, Scott E.

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005
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cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Zavadáková, Petra; Fowler, Brian; Suormala, Terttu; Novotna, Zorka; Mueller, Peter; Hennermann, Julia B.; Zeman, Jiří; Vilaseca, M. Antonia; Vilarinho, Laura; Gutsche, Sven; Wilichowski, Ekkehard; Horneff, Gerd; Kožich, Viktor

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005
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Thymopoietin (lamina‐associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

Taylor, Matthew R.G.; Slavov, Dobromir; Gajewski, Andreas; Vlcek, Sylvia; Ku, Lisa; Fain, Pamela R.; Carniel, Elisa; Di Lenarda, Andrea; Sinagra, Gianfranco; Boucek, Mark M.; Cavanaugh, Jean; Graw, Sharon L.; Ruegg, Patsy; Feiger, Jennie; Zhu, Xiao; Ferguson, Debra A.; Bristow, Michael R.; Gotzmann, Josef; Foisner, Roland; Mestroni, Luisa

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005
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Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Buckley, Patrick G.; Mantripragada, Kiran K.; Díaz de Ståhl, Teresita; Piotrowski, Arkadiusz; Hansson, Caisa M.; Kiss, Hajnalka; Vetrie, David; Ernberg, Ingemar T.; Nordenskjöld, Magnus; Bolund, Lars; Sainio, Markku; Rouleau, Guy A.; Niimura, Michihito; Wallace, Andrew J.; Evans, D. Gareth R.; Grigelionis, Gintautas; Menzel, Uwe; Dumanski, Jan P.

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Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

Sperling, Silke; Grimm, Christina H.; Dunkel, Ilona; Mebus, Siegrun; Sperling, Hans‐Peter; Ebner, Arno; Galli, Raffaello; Lehrach, Hans; Fusch, Christoph; Berger, Felix; Hammer, Stefanie

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Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Nguyen, Karine; Bassez, Guillaume; Bernard, Rafaëlle; Krahn, Martin; Labelle, Véronique; Figarella‐Branger, Dominique; Pouget, Jean; Hammouda, El Hadi; Béroud, Christophe; Urtizberea, Andoni; Eymard, Bruno; Leturcq, France; Lévy, Nicolas

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005
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Mutation rates at Y chromosome specific microsatellites

Gusmão, L.; Sánchez‐Diz, P.; Calafell, F.; Martín, P.; Alonso, C.A.; Álvarez‐Fernández, F.; Alves, C.; Borjas‐Fajardo, L.; Bozzo, W.R.; Bravo, M.L.; Builes, J.J.; Capilla, J.; Carvalho, M.; Castillo, C.; Catanesi, C.I.; Corach, D.; Di Lonardo, A.M.; Espinheira, R.; Fagundes de Carvalho, E.; Farfán, M.J.; Figueiredo, H.P.; Gomes, I.; Lojo, M.M.; Marino, M.; Pinheiro, M.F.; Pontes, M.L.; Prieto, V.; Ramos‐Luis, E.; Riancho, J.A.; Souza Góes, A.C.; Santapa, O.A.; Sumita, D.R.; Vallejo, G.; Vidal Rioja, L.; Vide, M.C.; Vieira da Silva, C.I.; Whittle, M.R.; Zabala, W.; Zarrabeitia, M.T.; Alonso, A.; Carracedo, A.; Amorim, A.

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Human Mutation Volume 26 Issue 6

Identification of 29 novel and nine recurrent fibrillin‐1 ( FBN1 ) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome

Rommel, Kathrin; Karck, Matthias; Haverich, Axel; von Kodolitsch, Yskert; Rybczynski, Meike; Müller, Götz; Singh, Krishna K.; Schmidtke, Jörg; Arslan‐Kirchner, Mine

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Tomatsu, Shunji; Montaño, Adriana M.; Nishioka, Tatsuo; Gutierrez, Monica A.; Peña, Olga M.; Tranda firescu, Georgeta G.; Lopez, Patricia; Yamaguchi, Seiji; Noguchi, Akihiko; Orii, Tadao

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Toward a Human Variome Project

Cotton, Richard G.H.; Kazazian, Haig H.

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Erratum: A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T

Hempen, Paula M.; Kurpad, Harsha; Calhoun, Eric S.; Abraham, Susan; Kern, Scott E.

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

Zavadáková, Petra; Fowler, Brian; Suormala, Terttu; Novotna, Zorka; Mueller, Peter; Hennermann, Julia B.; Zeman, Jiří; Vilaseca, M. Antonia; Vilarinho, Laura; Gutsche, Sven; Wilichowski, Ekkehard; Horneff, Gerd; Kožich, Viktor

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Thymopoietin (lamina‐associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

Sperling, Silke; Grimm, Christina H.; Dunkel, Ilona; Mebus, Siegrun; Sperling, Hans‐Peter; Ebner, Arno; Galli, Raffaello; Lehrach, Hans; Fusch, Christoph; Berger, Felix; Hammer, Stefanie

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Nguyen, Karine; Bassez, Guillaume; Bernard, Rafaëlle; Krahn, Martin; Labelle, Véronique; Figarella‐Branger, Dominique; Pouget, Jean; Hammouda, El Hadi; Béroud, Christophe; Urtizberea, Andoni; Eymard, Bruno; Leturcq, France; Lévy, Nicolas

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Mutation rates at Y chromosome specific microsatellites

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

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Human Mutation Volume 26 Issue 6

1 - 10 of 17 articles

Rommel, Kathrin; Karck, Matthias; Haverich, Axel; von Kodolitsch, Yskert; Rybczynski, Meike; Müller, Götz; Singh, Krishna K.; Schmidtke, Jörg; Arslan‐Kirchner, Mine

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Tomatsu, Shunji; Montaño, Adriana M.; Nishioka, Tatsuo; Gutierrez, Monica A.; Peña, Olga M.; Tranda firescu, Georgeta G.; Lopez, Patricia; Yamaguchi, Seiji; Noguchi, Akihiko; Orii, Tadao

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Cotton, Richard G.H.; Kazazian, Haig H.

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Hempen, Paula M.; Kurpad, Harsha; Calhoun, Eric S.; Abraham, Susan; Kern, Scott E.

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Zavadáková, Petra; Fowler, Brian; Suormala, Terttu; Novotna, Zorka; Mueller, Peter; Hennermann, Julia B.; Zeman, Jiří; Vilaseca, M. Antonia; Vilarinho, Laura; Gutsche, Sven; Wilichowski, Ekkehard; Horneff, Gerd; Kožich, Viktor

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Sperling, Silke; Grimm, Christina H.; Dunkel, Ilona; Mebus, Siegrun; Sperling, Hans‐Peter; Ebner, Arno; Galli, Raffaello; Lehrach, Hans; Fusch, Christoph; Berger, Felix; Hammer, Stefanie

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Nguyen, Karine; Bassez, Guillaume; Bernard, Rafaëlle; Krahn, Martin; Labelle, Véronique; Figarella‐Branger, Dominique; Pouget, Jean; Hammouda, El Hadi; Béroud, Christophe; Urtizberea, Andoni; Eymard, Bruno; Leturcq, France; Lévy, Nicolas

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005

Follow Human Mutation , Volume 26 (6) Wiley – Dec 1, 2005