検索結果 - D.D.D. Study

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features 著者: Karen Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David Fitzpatrick, Mark Greenslade, Alex Henderson, Jane A. Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja Kristine Selmer, Michael C. Schneider, Fiona Stewart, Katrina Tatton‐Brown, Julien Thévenon, Magnus Dehli Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D.D.D. Study, Sarah Smithson