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Details for article 2 of 14 found articles
| Title: |
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome |
| Author: |
Engal, Eden Oja, Kaisa Teele Maroofian, Reza Geminder, Ophir Le, Thuy-Linh Marzin, Pauline Guimier, Anne Mor, Evyatar Zvi, Naama Elefant, Naama Zaki, Maha S. Gleeson, Joseph G. Muru, Kai Pajusalu, Sander Wojcik, Monica H. Pachat, Divya Elmaksoud, Marwa Abd Chan Jeong, Won Lee, Hane Bauer, Peter Zifarelli, Giovanni Houlden, Henry Daana, Muhannad Elpeleg, Orly Amiel, Jeanne Lyonnet, Stanislas Gordon, Christopher T. Harel, Tamar Õunap, Katrin Salton, Maayan Mor-Shaked, Hagar |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 110 () nr. 12 pages 2112-2119 |
| Year: |
2023 |
| Contents: | |
| Publisher: |
American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 2 of 14 found articles
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