Dr Diana BaralleAMAL MUQHIM ABDULLAH ALMUQHIM2022-05-292022-05-29https://drepo.sdl.edu.sa/handle/20.500.14154/45257there are more than 50% of rare genetic diseases without a diagnosis because of many reasons including the shortage in DNA diagnosis. we aim to collect sn evidence to support the efficacy of the combined transcriptomic and DNA testing approach to diagnosed the remaining unsolved cases.en