1. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015) Authors: Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prenatal sonographic findings in a case of Wolman's disease. Issue 1 (4th April 2017) Authors: Blitz, Matthew J.; Rochelson, Burton; Sood, Monica; Bialer, Martin G.; Vohra, Nidhi Journal: Journal of clinical ultrasound Issue: Volume 46:Issue 1(2018) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays. Issue 10 (13th August 2013) Authors: Shuvarikov, Andrey; Campbell, Ian M.; Dittwald, Piotr; Neill, Nicholas J.; Bialer, Martin G.; Moore, Christine; Wheeler, Patricia G.; Wallace, Stephanie E.; Hannibal, Mark C.; Murray, Michael F.; Giovanni, Monica A.; Terespolsky, Deborah; Sodhi, Sandi; Cassina, Matteo; Viskochil, David; Moghaddam... Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗