1. Cover, Volume 42, Issue 2. Issue 2 (25th January 2021) Authors: Poulter, James A.; Gravett, Molly S. C.; Taylor, Rachel L.; Fujinami, Kaoru; De Zaeytijd, Julie; Bellingham, James; Rehman, Atta Ur; Hayashi, Takaaki; Kondo, Mineo; Rehman, Abdur; Ansar, Muhammad; Donnelly, Dan; Toomes, Carmel; Ali, Manir; De Baere, Elfride; Leroy, Bart P.; Davies, Nigel P.; Hend... Journal: Human mutation Issue: Volume 42:Issue 2(2021) Page Start: ii Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Craniosynostosis‐microphthalmia syndrome belongs to the spectrum of BCOR‐related disorders. Issue 4 (3rd August 2020) Authors: Cinnirella, Giacomo; Taylor, Rachel L.; Coco, Claudio; Piludu, Francesca; Vidiri, Antonello; Sinibaldi, Lorenzo; Kornak, Uwe; Black, Graeme; Brancati, Francesco Journal: Clinical genetics Issue: Volume 98:Issue 4(2020) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. New variants and in silico analyses in GRK1 associated Oguchi disease. Issue 2 (30th November 2020) Authors: Poulter, James A.; Gravett, Molly S. C.; Taylor, Rachel L.; Fujinami, Kaoru; De Zaeytijd, Julie; Bellingham, James; Rehman, Atta Ur; Hayashi, Takaaki; Kondo, Mineo; Rehman, Abdur; Ansar, Muhammad; Donnelly, Dan; Toomes, Carmel; Ali, Manir; De Baere, Elfride; Leroy, Bart P.; Davies, Nigel P.; Hend... Journal: Human mutation Issue: Volume 42:Issue 2(2021) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. New variants and in silico analyses in GRK1 associated Oguchi disease. Issue 2 (30th November 2020) Authors: Poulter, James A.; Gravett, Molly S. C.; Taylor, Rachel L.; Fujinami, Kaoru; De Zaeytijd, Julie; Bellingham, James; Rehman, Atta Ur; Hayashi, Takaaki; Kondo, Mineo; Rehman, Abdur; Ansar, Muhammad; Donnelly, Dan; Toomes, Carmel; Ali, Manir; De Baere, Elfride; Leroy, Bart P.; Davies, Nigel P.; Hend... Journal: Human mutation Issue: Volume 42:Issue 2(2021) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗