New! Learn more about the all new DeepDyve personalized home page where you can quickly skim your favorite journals all from one place

Human Mutation Volume 32 Issue 12

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

Bookmark
More Like This kcyjFbcoiG Rentable

Dilated cardiomyopathy‐associated BAG3 mutations impair Z‐disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

Arimura, Takuro; Ishikawa, Taisuke; Nunoda, Shinichi; Kawai, Sachio; Kimura, Akinori

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This Sd1bAPCFj8 Rentable

Location, Location, Cis ‐mutation

Ahituv, Nadav

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This k0GXWXPjKB Rentable

A response to: Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient Adducted Thumb–Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb–Clubfoot Syndrome” or “Ehlers–Danlos syndrome”?

Kosho, Tomoki; Miyake, Noriko; Mizumoto, Shuji; Hatamochi, Atsushi; Fukushima, Yoshimitsu; Yamada, Shuhei; Sugahara, Kazuyuki; Matsumoto, Naomichi

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This rYMUbGVeus Rentable

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family

Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This MLXiLnge13 Rentable

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; Sun, Hui; McGettigan, Paul; Nielsen, Jens E.; Conroy, Judith; Regan, Regina; Kenny, Elaine; Cormican, Paul; Morris, Derek W.; Tormey, Peter; Ní Chróinín, Muireann; Kennedy, Breandan N.; Lynch, SallyAnn; Green, Andrew; Ennis, Sean

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This 8IAbem02rN Rentable

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Kariminejad, Roxana; Lind‐Thomsen, Allan; Tümer, Zeynep; Erdogan, Fikret; Ropers, Hans H.; Tommerup, Niels; Ullmann, Reinhard; Møller, Rikke S.

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This lqCVmgFrt8 Rentable

SgD‐CNV, a database for common and rare copy number variants in three Asian populations

Xu, Haiyan; Poh, Wan‐Ting; Sim, Xueling; Ong, Rick Twee‐Hee; Suo, Chen; Tay, Wan‐Ting; Khor, Chiea‐Chuen; Seielstad, Mark; Liu, Jianjun; Aung, Tin; Tai, E‐Shyong; Wong, Tien‐Yin; Chia, Kee‐Seng; Teo, Yik‐Ying

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This uSoD1oBjp0 Rentable

Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies

McKay, Gareth J.; Patterson, Chris C.; Chakravarthy, Usha; Dasari, Shilpa; Klaver, Caroline C.; Vingerling, Johannes R.; Ho, Lintje; de Jong, Paulus T.V.M.; Fletcher, Astrid E.; Young, Ian S.; Seland, Johan H.; Rahu, Mati; Soubrane, Gisele; Tomazzoli, Laura; Topouzis, Fotis; Vioque, Jesus; Hingorani, Aroon D.; Sofat, Reecha; Dean, Michael; Sawitzke, Julie; Seddon, Johanna M.; Peter, Inga; Webster, Andrew R.; Moore, Anthony T.; Yates, John R.W.; Cipriani, Valentina; Fritsche, Lars G.; Weber, Bernhard H.F.; Keilhauer, Claudia N.; Lotery, Andrew J.; Ennis, Sarah; Klein, Michael L.; Francis, Peter J.; Stambolian, Dwight; Orlin, Anton; Gorin, Michael B.; Weeks, Daniel E.; Kuo, Chia‐Ling; Swaroop, Anand; Othman, Mohammad; Kanda, Atsuhiro; Chen, Wei; Abecasis, Goncalo R.; Wright, Alan F.; Hayward, Caroline; Baird, Paul N.; Guymer, Robyn H.; Attia, John; Thakkinstian, Ammarin; Silvestri, Giuliana

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This Ab1kLXe0Wi Rentable

Extending the phenotypes associated with DICER1 mutations

Foulkes, William D.; Bahubeshi, Amin; Hamel, Nancy; Pasini, Barbara; Asioli, Sofia; Baynam, Gareth; Choong, Catherine S.; Charles, Adrian; Frieder, Richard P.; Dishop, Megan K.; Graf, Nicole; Ekim, Mesiha; Bouron‐Dal Soglio, Dorothée; Arseneau, Jocelyne; Young, Robert H.; Sabbaghian, Nelly; Srivastava, Archana; Tischkowitz, Marc D.; Priest, John R.

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011
Bookmark
More Like This eYN0VL5T6j Rentable

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

Pan, Min; Cong, Peikuan; Wang, Yue; Lin, Changsong; Yuan, Ying; Dong, Jian; Banerjee, Santasree; Zhang, Tao; Chen, Yanling; Zhang, Ting; Chen, Mingqing; Hu, Peter; Zheng, Shu; Zhang, Jin; Qi, Ming

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Human Mutation Volume 32 Issue 12

Dilated cardiomyopathy‐associated BAG3 mutations impair Z‐disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

Arimura, Takuro; Ishikawa, Taisuke; Nunoda, Shinichi; Kawai, Sachio; Kimura, Akinori

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Location, Location, Cis ‐mutation

Ahituv, Nadav

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Kosho, Tomoki; Miyake, Noriko; Mizumoto, Shuji; Hatamochi, Atsushi; Fukushima, Yoshimitsu; Yamada, Shuhei; Sugahara, Kazuyuki; Matsumoto, Naomichi

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family

Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; Sun, Hui; McGettigan, Paul; Nielsen, Jens E.; Conroy, Judith; Regan, Regina; Kenny, Elaine; Cormican, Paul; Morris, Derek W.; Tormey, Peter; Ní Chróinín, Muireann; Kennedy, Breandan N.; Lynch, SallyAnn; Green, Andrew; Ennis, Sean

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Kariminejad, Roxana; Lind‐Thomsen, Allan; Tümer, Zeynep; Erdogan, Fikret; Ropers, Hans H.; Tommerup, Niels; Ullmann, Reinhard; Møller, Rikke S.

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

SgD‐CNV, a database for common and rare copy number variants in three Asian populations

Xu, Haiyan; Poh, Wan‐Ting; Sim, Xueling; Ong, Rick Twee‐Hee; Suo, Chen; Tay, Wan‐Ting; Khor, Chiea‐Chuen; Seielstad, Mark; Liu, Jianjun; Aung, Tin; Tai, E‐Shyong; Wong, Tien‐Yin; Chia, Kee‐Seng; Teo, Yik‐Ying

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Extending the phenotypes associated with DICER1 mutations

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

Pan, Min; Cong, Peikuan; Wang, Yue; Lin, Changsong; Yuan, Ying; Dong, Jian; Banerjee, Santasree; Zhang, Tao; Chen, Yanling; Zhang, Ting; Chen, Mingqing; Hu, Peter; Zheng, Shu; Zhang, Jin; Qi, Ming

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Advanced Filters:

Specific Data Sources:

Human Mutation Volume 32 Issue 12

1 - 10 of 25 articles

Arimura, Takuro; Ishikawa, Taisuke; Nunoda, Shinichi; Kawai, Sachio; Kimura, Akinori

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Kosho, Tomoki; Miyake, Noriko; Mizumoto, Shuji; Hatamochi, Atsushi; Fukushima, Yoshimitsu; Yamada, Shuhei; Sugahara, Kazuyuki; Matsumoto, Naomichi

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; Sun, Hui; McGettigan, Paul; Nielsen, Jens E.; Conroy, Judith; Regan, Regina; Kenny, Elaine; Cormican, Paul; Morris, Derek W.; Tormey, Peter; Ní Chróinín, Muireann; Kennedy, Breandan N.; Lynch, SallyAnn; Green, Andrew; Ennis, Sean

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Kariminejad, Roxana; Lind‐Thomsen, Allan; Tümer, Zeynep; Erdogan, Fikret; Ropers, Hans H.; Tommerup, Niels; Ullmann, Reinhard; Møller, Rikke S.

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Xu, Haiyan; Poh, Wan‐Ting; Sim, Xueling; Ong, Rick Twee‐Hee; Suo, Chen; Tay, Wan‐Ting; Khor, Chiea‐Chuen; Seielstad, Mark; Liu, Jianjun; Aung, Tin; Tai, E‐Shyong; Wong, Tien‐Yin; Chia, Kee‐Seng; Teo, Yik‐Ying

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011

Pan, Min; Cong, Peikuan; Wang, Yue; Lin, Changsong; Yuan, Ying; Dong, Jian; Banerjee, Santasree; Zhang, Tao; Chen, Yanling; Zhang, Ting; Chen, Mingqing; Hu, Peter; Zheng, Shu; Zhang, Jin; Qi, Ming

Follow Human Mutation , Volume 32 (12) Wiley – Dec 1, 2011