Journal of human genetics
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Table of contents
- 173
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A Commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)Boor, I. et al. | 2011
- 174
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Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriersOzono, K. / Michigami, T. et al. | 2011
- 177
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Knowledge gaining by human genetic studies on tuberculosis susceptibilityQu, H. Q. / Fisher-Hoch, S. P. / McCormick, J. B. et al. | 2011
- 183
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Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutationsHadzsiev, K. / Polgar, N. / Bene, J. et al. | 2011
- 188
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Association of ADAM33 gene polymorphisms with asthma in Indian childrenAwasthi, S. / Tripathi, P. / Ganesh, S. et al. | 2011
- 196
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Association of HLA-A*02:06 and HLA-DRB1*04:05 with clinical subtypes of juvenile idiopathic arthritisYanagimachi, M. / Miyamae, T. / Naruto, T. et al. | 2011
- 200
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No association between TNFSF15 and IL23R with ulcerative colitis in KoreansYang, S. K. / Jung, Y. / Hong, M. et al. | 2011
- 205
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A regulatory SNP in AKAP13 is associated with blood pressure in KoreansHong, K. W. / Lim, J. E. / Oh, B. et al. | 2011
- 211
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Impact of LIMK1, MMP2 and TNF-α variations for intracranial aneurysm in Japanese populationLow, S. K. / Zembutsu, H. / Takahashi, A. et al. | 2011
- 217
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Association of CARD8 with inflammatory bowel disease in KoreansYang, S. K. / Kim, H. / Hong, M. et al. | 2011
- 224
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A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestryKral, B. G. / Mathias, R. A. / Suktitipat, B. et al. | 2011
- 230
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KEAP1 gene mutations and NRF2 activation are common in pulmonary papillary adenocarcinomaLi, Q. K. / Singh, A. / Biswal, S. et al. | 2011
- 235
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Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian PeninsulaTerreros, M. C. / Rowold, D. J. / Mirabal, S. et al. | 2011
- 247
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Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosisBelzil, V. V. / St-Onge, J. / Daoud, H. et al. | 2011
- 250
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A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutationNakayama, J. / Iwasaki, N. / Shin, K. et al. | 2011
- 253
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Positive selection on mitochondrial M7 lineages among the Gelong people in HainanYang, K. / Zheng, H. / Qin, Z. et al. | 2011