Rezultaty - The Deciphering Developmental Disor Study

Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability od Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri