@article{bakhshalizadeh:hal-04205616,
TITLE = {Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency},
AUTHOR = {Bakhshalizadeh, Shabnam and Hock, Daniella and Siddall, Nicole and Kline, Brianna and Sreenivasan, Rajini and Bell, Katrina and Casagranda, Franca and Kamalanathan, Sadishkumar and Sahoo, Jayaprakash and Narayanan, Niya and Naik, Dukhabandhu and Suryadevara, Varun and Compton, Alison and Amarasekera, Sumudu and Kapoor, Ridam and Jaillard, Sylvie and Simpson, Andrea and Robevska, Gorjana and van den Bergen, Jocelyn and Pachernegg, Svenja and Ayers, Katie and Thorburn, David and Stroud, David and Hime, Gary and Sinclair, Andrew and Tucker, Elena},
URL = {https://univ-rennes.hal.science/hal-04205616},
JOURNAL = {Human Genetics},
PUBLISHER = {Springer Verlag},
VOLUME = {142},
NUMBER = {7},
PAGES = {879-907},
YEAR = {2023},
MONTH = Jul, DOI = {10.1007/s00439-023-02563-z},
HAL_ID = {hal-04205616},
HAL_VERSION = {v1},
}