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Details for article 4 of 15 found articles
| Title: |
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome |
| Author: |
Wieczorek, Dagmar Newman, William G. Wieland, Thomas Berulava, Tea Kaffe, Maria Falkenstein, Daniela Beetz, Christian Graf, Elisabeth Schwarzmayr, Thomas Douzgou, Sofia Clayton-Smith, Jill Daly, Sarah B. Williams, Simon G. Bhaskar, Sanjeev S. Urquhart, Jill E. Anderson, Beverley O’Sullivan, James Boute, Odile Gundlach, Jasmin Czeschik, Johanna Christina van Essen, Anthonie J. Hazan, Filiz Park, Sarah Hing, Anne Kuechler, Alma Lohmann, Dietmar R. Ludwig, Kerstin U. Mangold, Elisabeth Steenpaß, Laura Zeschnigk, Michael Lemke, Johannes R. Lourenco, Charles Marques Hehr, Ute Prott, Eva-Christina Waldenberger, Melanie Böhmer, Anne C. Horsthemke, Bernhard O’Keefe, Raymond T. Meitinger, Thomas Burn, John Lüdecke, Hermann-Josef Strom, Tim M. |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 95 (2014) nr. 6 pages 10 p. |
| Year: |
2014 |
| Contents: | |
| Publisher: |
The American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 4 of 15 found articles
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