1. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Issue 12 (2nd October 2013) Authors: Peddibhotla, Sirisha; Khalifa, Mohamed; Probst, Frank J.; Stein, Jennifer; Harris, Leslie L.; Kearney, Debra L.; Vance, Gail H.; Bull, Marilyn J.; Grange, Dorothy K.; Scharer, Gunter H.; Kang, Sue‐Hae L.; Stankiewicz, Pawel; Bacino, Carlos A.; Cheung, Sau W.; Patel, Ankita Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 2953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Issue 12 (2nd October 2013) Authors: Peddibhotla, Sirisha; Khalifa, Mohamed; Probst, Frank J.; Stein, Jennifer; Harris, Leslie L.; Kearney, Debra L.; Vance, Gail H.; Bull, Marilyn J.; Grange, Dorothy K.; Scharer, Gunter H.; Kang, Sue‐Hae L.; Stankiewicz, Pawel; Bacino, Carlos A.; Cheung, Sau W.; Patel, Ankita Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 2953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies. Issue 7 (1st May 2014) Authors: Marttila, Minttu; Lehtokari, Vilma‐Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan‐Birsoy, Özge; Cintas, Pascal; Gerard, Marion; Gilbert‐Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B.; Kl... Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 779 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗