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Journal description
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Details for article 10 of 18 found articles
| Title: |
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects |
| Author: |
De Mori, Roberta Romani, Marta D’Arrigo, Stefano Zaki, Maha S. Lorefice, Elisa Tardivo, Silvia Biagini, Tommaso Stanley, Valentina Musaev, Damir Fluss, Joel Micalizzi, Alessia Nuovo, Sara Illi, Barbara Chiapparini, Luisa Di Marcotullio, Lucia Issa, Mahmoud Y. Anello, Danila Casella, Antonella Ginevrino, Monia Leggins, Autumn Sa’na Roosing, Susanne Alfonsi, Romina Rosati, Jessica Schot, Rachel Mancini, Grazia Maria Simonetta Bertini, Enrico Dobyns, William B. Mazza, Tommaso Gleeson, Joseph G. Valente, Enza Maria |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 101 (2017) nr. 4 pages 552-563 |
| Year: |
2017 |
| Contents: | |
| Publisher: |
American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 10 of 18 found articles
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