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| 1 | Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen显示文摘 | Tyson J Tranebjaerg L McEntagart M | 2000 | Hum Genet2000，107，5： | 1 |
| 2 | IsK and KvLQT1:mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome显示文摘 | Tyson J Tranebjaerg L Bellman S | 1997 | Hum Mol Genet1997，6，12： | 1 |
| 3 | A commann ancestral origin of the frequent and widespread 2299del G USH2A mutation显示文摘 | Dreyer B Tranebjaerg L Brox V | 2001 | Am J Hum Genet2001，69，1： | 1 |
| 4 | Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II 显示文摘 | Dreyer B Brox V Tranebjaerg L | 2008 | Hum Mutat2008，29，3： | 1 |
| 5 | Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen显示文摘 | Tranebjaerg L McEntagart M | 2000 | Hum Genet2000，107，5： | 1 |
| 6 | Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome显示文摘 | Peterson MB Schinzel AA Binkert F Tranebjaerg L | 1991 | Am J Hum Genet1991，48，： | 1 |
| 7 | IsK and KvLQT1 : mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome 显示文摘 | Tyson J Tranebjaerg L Bellman S | 1997 | Hum Mol Genet1997，6，： | 1 |
| 8 | Mutation spectrum in the cardioauditory syndrome of Jervell and Large - Nielsen 显示文摘 | Tyson J Tranebjaerg L Mcentagart M | 2000 | Hum Genet2000，107，： | 1 |
| 9 | A novel nonsense mutation in MYO6 is associated with progres-sive nonsyndromic hearing loss in a Danish DFNA22 family显示文摘 | Sanggaard KM Kjaer KW Eiberg H Nürnberg G Nürnberg P Hoffman K Jensen H S?rum C Rendtorff ND Tranebjaerg L | | 0，，08： | 1 |
| 10 | IsK and KvLQT1:mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome显示文摘 | Tyson J Tranebjaerg L Bellman S | 1997 | Hum Mol Genet1997，6，： | 1 |
| 11 | Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type IT显示文摘 | Dreyer B Brox V Tranebjaerg L | 2008 | Hum Mutat2008，29，： | 1 |
| 12 | A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22显示文摘 | Tranebjaerg L Schwartz C Eriksen H | 1995 | J Med Genet1995，32，4： | 1 |
| 13 | Spectrum of CLCN1 mutations in patients with myotonia oongenita in Northern Scandinavia 显示文摘 | Sun C Tranebjaerg L Torbergsen T | 2001 | Eur J Hum Genet2001，9，12： | 1 |
| 14 | Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene显示文摘 | Tranebjaerg L Jensen PK Van Ghelue M | 2001 | Ophthalmic Genet2001，22，4： | 1 |
| 15 | A novel X-linked gene,DDP,shows mutations in families with deafness(DFN-1),dystonia,mental deficiency and blindness显示文摘 | Jin H May M Tranebjaerg L | 1996 | Nat Genet1996，14，2： | 1 |
| 16 | A novel X-linked gene,DDP,shows mutations in families with deafness (DFN-1),dystonia,mental deficiency and blindness显示文摘 | MAY M TRANEBJAERG L | 1996 | Nat Genet1996，14，2： | 1 |
| 17 | Spectrum of CLCNI mutations in patients with myotonia congenita in Northern Scandinavia显示文摘 | Sun C Tranebjaerg L Torbergsen T | 2001 | Eur J Hum Genet2001，9，12： | 1 |
| 18 | A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1),dystonia, mental deficiency and blindness 显示文摘 | Jin H May M Tranebjaerg L etal | 1996 | Nat Genet1996，14，2： | 1 |
| 19 | A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome显示文摘 | Koppelhus U Tranebjaerg L Esberg G | 2011 | Clin Exp Dermatol2011，36，2： | 1 |
| 20 | Spectrum of CLCN1 mutations in patients with myotonia congenital in Northern Scandinavia显示文摘 | Sun C Tranebjaerg L Torbergsen T | 2001 | Eur J Hum Genet2001，9，： | 1 |
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