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Volume 62,
Issue 12
Volume 62,
Issue 11
Volume 62,
Issue 10
Volume 62,
Issue 9
Volume 62,
Issue 8
Volume 62,
Issue 7
Volume 62,
Issue 6
Volume 62,
Issue 5
Volume 62,
Issue 4
Volume 62,
Issue 3
Volume 62,
Issue 2
Volume 62,
Issue 1
Volume 61,
Issue 12
Volume 61,
Issue 11
Volume 61,
Issue 10
Volume 61,
Issue 9
Volume 61,
Issue 8
Volume 61,
Issue 7
Volume 61,
Issue 6
Volume 61,
Issue 5
Volume 61,
Issue 4
Volume 61,
Issue 3
Volume 61,
Issue 1
Volume 60,
Issue 12
Volume 60,
Issue 11
Volume 60,
Issue 10
Volume 60,
Issue 9
Volume 60,
Issue 8
Volume 60,
Issue 7
Volume 60,
Issue 6
Volume 60,
Issue 5
Volume 60,
Issue 4
Volume 60,
Issue 3
Volume 60,
Issue 2
Volume 60,
Issue 1
Volume 59,
Issue 12
Volume 59,
Issue 11
Volume 59,
Issue 10
Volume 59,
Issue 9
Volume 59,
Issue 8
Volume 59,
Issue 7
Volume 59,
Issue 6
Volume 59,
Issue 5
Volume 59,
Issue 4
Volume 59,
Issue 3
Volume 59,
Issue 2
Volume 59,
Issue 1
Volume 58,
Issue 12
Volume 58,
Issue 11
Volume 58,
Issue 10
Volume 58,
Issue 9
Volume 58,
Issue 8
Volume 58,
Issue 7
Volume 58,
Issue 6
Volume 58,
Issue 5
Volume 58,
Issue 4
Volume 58,
Issue 3
Volume 58,
Issue 2
Volume 58,
Issue 1
Volume 57,
Issue 12
Volume 57,
Issue 11
Volume 57,
Issue 10
Volume 57,
Issue 9
Volume 57,
Issue 8
Volume 57,
Issue 7
Volume 57,
Issue 6
Volume 57,
Issue 5
Volume 57,
Issue 4
Volume 57,
Issue 3
Volume 57,
Issue 2
Volume 57,
Issue 1
Volume 56,
Issue 12
Volume 56,
Issue 11
Volume 56,
Issue 10
Volume 56,
Issue 9
Volume 56,
Issue 8
Volume 56,
Issue 7
Volume 56,
Issue 6
Volume 56,
Issue 5
Volume 56,
Issue 4
Volume 56,
Issue 3
Volume 56,
Issue 2
Volume 56,
Issue 1
Volume 55,
Issue 12
Volume 55,
Issue 11
Volume 55,
Issue 10
Volume 55,
Issue 9
Volume 55,
Issue 8
Volume 55,
Issue 7
Volume 55,
Issue 6
Volume 55,
Issue 5
Volume 55,
Issue 4
Volume 55,
Issue 3
Volume 55,
Issue 2
Volume 55,
Issue 1
Volume 54,
Issue 12
Volume 54,
Issue 11
Volume 54,
Issue 10
Volume 54,
Issue 9
Volume 54,
Issue 8
Volume 54,
Issue 7
Volume 54,
Issue 6
Volume 54,
Issue 5
Volume 54,
Issue 4
Volume 54,
Issue 3
Volume 54,
Issue 2
Volume 54,
Issue 1
Volume 53,
Issue 12
Volume 53,
Issue 11
Volume 53,
Issue 10
Volume 53,
Issue 9
Volume 53,
Issue 8
Volume 53,
Issue 7
Volume 53,
Issue 6
Volume 53,
Issue 5
Volume 53,
Issue 4
Volume 53,
Issue 3
Volume 53,
Issue 2
Volume 53,
Issue 1
Volume 52,
Issue 12
Volume 52,
Issue 11
Volume 52,
Issue 10
Volume 52,
Issue 9
Volume 52,
Issue 8
Volume 52,
Issue 7
Volume 52,
Issue 6
Volume 52,
Issue 5
Volume 52,
Issue 4
Volume 52,
Issue 3
Volume 52,
Issue 2
Volume 52,
Issue 1
Volume 51,
Issue 12
Volume 51,
Issue 11
Volume 51,
Issue 10
Volume 51,
Issue 9
Volume 51,
Issue 8
Volume 51,
Issue 7
Volume 51,
Issue 6
Volume 51,
Issue 5
Volume 51,
Issue 4
Volume 51,
Issue 3
Volume 51,
Issue 2
Volume 51,
Issue 1
Volume 50,
Issue 12
Volume 50,
Issue 11
Volume 50,
Issue 10
Volume 50,
Issue 9
Volume 50,
Issue 8
Volume 50,
Issue 7
Volume 50,
Issue 6
Volume 50,
Issue 5
Volume 50,
Issue 4
Volume 50,
Issue 3
Volume 50,
Issue 2
Volume 50,
Issue 1
Volume 49,
Issue 12
Volume 49,
Issue 10
Volume 44,
Issue 6
Volume 44,
Issue 5
Volume 44,
Issue 4
Volume 44,
Issue 3
Volume 44,
Issue 2
Volume 44,
Issue 1
Volume 43,
Issue 4
Volume 43,
Issue 3
Volume 43,
Issue 2
Volume 43,
Issue 1
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Table of contents
167
SPTAN1 encephalopathy: distinct phenotypes and genotypes
Tohyama, J.
/ Nakashima, M.
/ Nabatame, S.
et al.
| 2015
175
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach
Miyatake, S.
/ Koshimizu, E.
/ Fujita, A.
et al.
| 2015
183
Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31
Sosoi, S.
/ Streata, I.
/ Tudorache, S.
et al.
| 2015
187
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation
Kunii, M.
/ Doi, H.
/ Higashiyama, Y.
et al.
| 2015
193
Genetic diversity of disease-associated loci in Turkish population
Karaca, S.
/ Cesuroglu, T.
/ Karaca, M.
et al.
| 2015
199
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2
Sergouniotis, P. I.
/ Urquhart, J. E.
/ Williams, S. G.
et al.
| 2015
203
Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent
Hayashi, S.
/ Yagi, M.
/ Morisaki, I.
et al.
| 2015
207
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability
Santos-Reboucas, C. B.
/ de Almeida, L. G.
/ Belet, S.
et al.
| 2015
213
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations
Seo, J.
/ Choi, I. H.
/ Lee, J. S.
et al.
| 2015
217
Novel mutations in the PNPLA6 gene in Boucher-Neuhauser syndrome
Koh, K.
/ Kobayashi, F.
/ Miwa, M.
et al.
| 2015
221
NF1 single and multi-exons copy number variations in neurofibromatosis type 1
Imbard, A.
/ Pasmant, E.
/ Sabbagh, A.
et al.
| 2015
225
How should the legal framework for the protection of human genomic data be formulated?—Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act)
Yamamoto, N.
/ Kawashima, M.
/ Fujita, T.
et al.
| 2015