Journal: Clinical genetics - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Journal Clinical genetics

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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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