Journal of human genetics
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
Table of contents
- 365
-
KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patientsKang, E. / Park, S. K. / Lee, J. W. et al. | 2016
- 373
-
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutationsKhordadpoor-Deilamani, F. / Akbari, M. T. / Karimipoor, M. et al. | 2016
- 381
-
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizuresFukai, R. / Saitsu, H. / Tsurusaki, Y. et al. | 2016
- 389
-
Investigation of associations between ten polymorphisms and the risk of coronary artery disease in Southern Han ChineseHuang, E. W. / Peng, L. Y. / Zheng, J. X. et al. | 2016
- 395
-
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETPCağlayan, A. O. / Tuysuz, B. / Coşkun, S. et al. | 2016
- 405
-
Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean menCho, E. R. / Jee, Y. H. / Kim, S. W. et al. | 2016
- 411
-
Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controlsMachiela, M. J. / Zhou, W. / Caporaso, N. et al. | 2016
- 419
-
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencingYoshimura, H. / Miyagawa, M. / Kumakawa, K. et al. | 2016
- 423
-
Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variantsRyu, D. / Ryu, J. / Lee, C. et al. | 2016
- 427
-
Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglycerideKurano, M. / Tsukamoto, K. / Kamitsuji, S. et al. | 2016
- 435
-
A functional SNP in FLT1 increases risk of coronary artery disease in a Japanese populationKonta, A. / Ozaki, K. / Sakata, Y. et al. | 2016
- 443
-
Tibial hemimelia associated with GLI3 truncationDeimling, S. / Sotiropoulos, C. / Lau, K. et al. | 2016
- 447
-
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndromeSchaefer, E. / Stoetzel, C. / Scheidecker, S. et al. | 2016
- 451
-
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotoniaFukai, R. / Saitsu, H. / Okamoto, N. et al. | 2016
- 457
-
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH geneJamsheer, A. / Sowińska-Seidler, A. / Olech, E. M. et al. | 2016
- 463
-
Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 geneRodriguez-Martin, C. / Cidre, F. / Fernandez-Teijeiro, A. et al. | 2016