1. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Issue 6 (24th September 2018) Authors: Tam, Allison; Chen, Shan; Schauer, Evan; Grafe, Ingo; Bandi, Venkata; Shapiro, Jay R.; Steiner, Robert D.; Smith, Peter A.; Bober, Michael B.; Hart, Tracy; Cuthbertson, David; Krischer, Jeffrey; Mullins, Mary; Byers, Peter H.; Sandhaus, Robert A.; Durigova, Michaela; Glorieux, Francis H.; Rauch, ... Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020) Authors: Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dolichol kinase deficiency (DOLK‐CDG): Two new cases and expansion of phenotype. Issue 9 (17th August 2017) Authors: Rush, Eric T.; Baker, Craig V.; Rizzo, William B. Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Four new patients with Gomez–Lopez‐Hernandez syndrome and proposed diagnostic criteria1. Issue 2 (4th January 2013) Authors: Rush, Eric T.; Adam, Margaret P.; Clark, Robin D.; Curry, Cynthia; Hartmann, Julianne E.; Dobyns, William B.; Olney, Ann Haskins Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Gender dysphoria in adolescents with Ehlers–Danlos syndrome. (December 2022) Authors: Jones, Jordan T.; Black, William R.; Moser, Christine N.; Rush, Eric T.; Malloy Walton, Lindsey Journal: SAGE open medicine Issue: Volume 10(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta. Issue 9 (October 2018) Authors: Grossman, Leonid S.; Price, Amber L.; Rush, Eric T.; Goodwin, Jennifer L.; Wallace, Maegen J.; Esposito, Paul W. Journal: Journal of pediatric orthopaedics Issue: Volume 38:Issue 9(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Liver transplant for congenital factor VII deficiency. Issue 10 (28th February 2014) Authors: Acquazzino, Melissa A.; Rush, Eric T.; Quiros Tejeira, Ruben E.; Beck, Jill C. Journal: Pediatric blood & cancer Issue: Volume 61:Issue 10(2014:Oct.) Page Start: 1886 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta. Issue 6 (July 2018) Authors: Azzam, Khalid A.; Rush, Eric T.; Burke, Bridget R.; Nabower, Aleisha M.; Esposito, Paul W. Journal: Journal of pediatric orthopaedics Issue: Volume 38:Issue 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. (10th November 2021) Authors: Rush, Eric T.; Johnson, Britt; Aradhya, Swaroop; Beltran, Daniel; Bristow, Sara L.; Eisenbeis, Scott; Guerra, Norma E.; Krolczyk, Stan; Miller, Nicole; Morales, Ana; Ramesan, Prameela; Sarafrazi, Soodabeh; Truty, Rebecca; Dahir, Kathryn Journal: Journal of bone and mineral research Issue: Volume 37:Number 2(2022) Page Start: 202 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease. Issue 5 (8th February 2021) Authors: Cadieux‐Dion, Maxime; Hughes, Susan; Engleman, Kendra; Rush, Eric T.; Saunders, Carol Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗