1. Mutation identification of Fabry disease in families with other lysosomal storage disorders. (28th December 2012) Authors: Zampetti, A; Fania, L; Antuzzi, D; Giurdanella, F; Gnarra, M; Bertola, F; Lualdi, S; Filocamo, M; Morrone, A; Feliciani, C Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. (20th December 2012) Authors: Carmichael, H; Shen, Y; Nguyen, TT; Hirschhorn, JN; Dauber, A Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. (7th November 2012) Authors: Khan, MI; Ajmal, M; Micheal, S; Azam, M; Hussain, A; Shahzad, A; Venselaar, H; Bokhari, H; de Wijs, IJ; Hoefsloot, LH; Waheed, NK; Collin, RWJ; den Hollander, AI; Qamar, R; Cremers, FPM Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel OTOA mutations cause autosomal recessive non‐syndromic hearing impairment in Pakistani families. (23rd November 2012) Authors: Lee, K; Chiu, I; Santos‐Cortez, RLP; Basit, S; Khan, S; Azeem, Z; Andrade, PB; Kim, SS; Ahmad, W; Leal, SM Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bernarda Strauss, MD, 1964–2013: a remembrance1. (2nd July 2013) Authors: Michael Cohen, M. Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Rare autosomal dominant mutations in GNAL are associated with primary torsion dystonia. (17th June 2013) Authors: Kaur, A Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Knowledge of the Genetic Information Nondiscrimination act among individuals affected by Huntington disease. (20th December 2012) Authors: Dorsey, ER; Darwin, KC; Nichols, PE; Kwok, JH; Bennet, C; Rosenthal, LS; Bombard, Y; Shoulson, I; Oster, E Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. (27th December 2012) Authors: Pinheiro, M; Pinto, C; Peixoto, A; Veiga, I; Mesquita, B; Henrique, R; Lopes, P; Sousa, O; Fragoso, M; Dias, LM; Baptista, M; Marinho, C; Mangold, E; Vaccaro, C; Evans, DG; Farrington, S; Dunlop, MG; Teixeira, MR Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FANCA and FANCG are the major Fanconi anemia genes in the Korean population. (12th August 2013) Authors: Park, J; Chung, N‐G; Chae, H; Kim, M; Lee, S; Kim, Y; Lee, J‐W; Cho, B; Jeong, DC; Park, IY Journal: Clinical genetics Issue: Volume 84:Number 3(2013:Sep.) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. Issue 6 (16th February 2016) Authors: Mouden, C.; Dubourg, C.; Carré, W.; Rose, S.; Quelin, C.; Akloul, L.; Hamdi‐Rozé, H.; Viot, G.; Salhi, H.; Darnault, P.; Odent, S.; Dupé, V.; David, V. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗