Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing
通过父母外显子组测序诊断致死性或产前发病的常染色体隐性遗传病
期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.5175.
Karen L Stals ,Matthew Wakeling ,Júlia Baptista ,Richard Caswell ,Andrew Parrish ,Julia Rankin ,Carolyn Tysoe ,Garan Jones ,Adam C Gunning ,Hana Lango Allen ,Lisa Bradley ,Angela F Brady ,Helena Carley ,Jenny Carmichael ,Bruce Castle ,Deirdre Cilliers ,Helen Cox ,Charu Deshpande ,Abhijit Dixit ,Jacqueline Eason ,Frances Elmslie ,Andrew E Fry ,Alan Fryer ,Muriel Holder ,Tessa Homfray ,Emma Kivuva ,Victoria McKay ,Ruth Newbury-Ecob ,Michael Parker ,Ravi Savarirayan ,Claire Searle ,Nora Shannon ,Deborah Shears ,Sarah Smithson ,Ellen Thomas ,Peter D Turnpenny ,Vinod Varghese ,Pradeep Vasudevan ,Emma Wakeling ,Emma L Baple ,Sian Ellard
