1. A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Issue 2 (8th January 2015) Authors: Al‐Zaidy, Samiah A.; Malik, Vinod; Kneile, Kelley; Rosales, Xiomara Q.; Gomez, Ana Maria; Lewis, Sarah; Hashimoto, Sayaka; Gastier‐Foster, Julie; Kang, Peter; Darras, Basil; Kunkel, Louis; Carlo, Jose; Sahenk, Zarife; Moore, Steven A.; Pyatt, Robert; Mendell, Jerry R. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 2(2015:Mar.) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Issue 2 (8th January 2015) Authors: Al‐Zaidy, Samiah A.; Malik, Vinod; Kneile, Kelley; Rosales, Xiomara Q.; Gomez, Ana Maria; Lewis, Sarah; Hashimoto, Sayaka; Gastier‐Foster, Julie; Kang, Peter; Darras, Basil; Kunkel, Louis; Carlo, Jose; Sahenk, Zarife; Moore, Steven A.; Pyatt, Robert; Mendell, Jerry R. Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 2(2015:Mar.) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. Issue 9 (29th July 2013) Authors: Hickey, Scott E.; Walters‐Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Pyatt, Robert; Snyder, Pamela J.; Sotos, Juan F.; Prior, Thomas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. Issue 9 (29th July 2013) Authors: Hickey, Scott E.; Walters‐Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Pyatt, Robert; Snyder, Pamela J.; Sotos, Juan F.; Prior, Thomas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗