1. A Case of Progressive Quadriceps Weakness and Elevated Creatine Kinase Level Mimicking Inclusion Body Myositis. Issue 2 (February 2014) Authors: Leung, Doris G.; Taylor, Harold A.; Lindy, Amanda S.; Basehore, Monica J.; Mammen, Andrew L. Journal: Arthritis care & research Issue: Volume 66:Issue 2(2014:Feb.) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain. Issue 2 (5th December 2013) Authors: Rojnueangnit, Kitiwan; Jones, Julie R.; Basehore, Monica J.; Robin, Nathaniel H. Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1. Issue 6 (30th March 2016) Authors: Lindy, Amanda S.; Basehore, Monica J.; Munisha, Mumingjiang; Williams, Aimee Leanne; Friez, Michael J.; Writzl, Karin; Willems, Patrick; Dougan, Scott T. Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1573 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular Analysis of Fragile X Syndrome. (21st January 2014) Authors: Basehore, Monica J.; Friez, Michael J. Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R. Journal: Current protocols in human genetics Issue: Volume 80(2014) Page Start: 9.5.1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. Issue 6 (23rd April 2013) Authors: Giampietro, Philip F.; Baker, Mei W.; Basehore, Monica J.; Jones, Julie R.; Seroogy, Christine M. Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1432 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome. Issue 9 (12th June 2014) Authors: Lindy, Amanda S.; Bupp, Caleb P.; McGee, Stephen J.; Steed, Erin; Stevenson, Roger E.; Basehore, Monica J.; Friez, Michael J. Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. UNIT 9.5 Molecular Analysis of Fragile X Syndrome. (21st January 2014) Authors: Basehore, Monica J.; Friez, Michael J. Journal: Current protocols in human genetics Issue: Volume 80(2014) Page Start: 9.5.1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗