1. Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene. Issue 1 (2nd November 2022) Authors: Asegaonkar, Prashant; Kotecha, Udhaya; Dongre, Mayuresh; Mistri, Mehul; Sharda, Sheetal Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. Issue 6 (25th March 2019) Authors: Rauen, Katherine A.; Alsaegh, Abeer; Ben‐Shachar, Shay; Berman, Yemima; Blakeley, Jaishri; Cordeiro, Isabel; Elgersma, Ype; Evans, D. Gareth; Fisher, Michael J.; Frayling, Ian M.; George, Joshi; Huson, Susan M.; Kerr, Bronwyn; Khire, Uday; Korf, Bruce; Legius, Eric; Messiaen, Ludwine; van Minkele... Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1091 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗