Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Papers: 10.1136/jmedgenet-2018-105623
https://doi.org/10.1136/jmedgenet-2018-105623
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive<i>c</i>erebellar,<i>o</i>cular, cranio<i>f</i>acial and<i>g</i>enital features (COFG syndrome)
Cited by: 23
Author(s): Abolfazl Rad, Umut Altunoğlu, Rebecca Miller, Reza Maroofian, Kiely N. James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose‐Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gulhan A. Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Péter Bauer, Zeineb Bakey, Joseph G. Gleeson, Natalie Hauser, Murat Günel, Hülya Kayserili, Miriam Schmidts
Published: almost 6 years ago