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Details for article 1 of 21 found articles
| Title: |
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay |
| Author: |
Schoch, Kelly Meng, Linyan Szelinger, Szabolcs Bearden, David R. Stray-Pedersen, Asbjorg Busk, Oyvind L. Stong, Nicholas Liston, Eriskay Cohn, Ronald D. Scaglia, Fernando Rosenfeld, Jill A. Tarpinian, Jennifer Skraban, Cara M. Deardorff, Matthew A. Friedman, Jeremy N. Akdemir, Zeynep Coban Walley, Nicole Mikati, Mohamad A. Kranz, Peter G. Jasien, Joan McConkie-Rosell, Allyn McDonald, Marie Wechsler, Stephanie Burns Freemark, Michael Kansagra, Sujay Freedman, Sharon Bali, Deeksha Millan, Francisca Bale, Sherri Nelson, Stanley F. Lee, Hane Dorrani, Naghmeh Goldstein, David B. Xiao, Rui Yang, Yaping Posey, Jennifer E. Martinez-Agosto, Julian A. Lupski, James R. Wangler, Michael F. Shashi, Vandana |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 100 (2017) nr. 2 pages 343-351 |
| Year: |
2017 |
| Contents: | |
| Publisher: |
American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 1 of 21 found articles
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