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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. [electronic resource] by
- Ibarra-González, Isabel
- Fernández-Lainez, Cynthia
- Guillén-López, Sara
- López-Mejía, Lizbeth
- Belmont-Matínez, Leticia
- Sokolsky, Tanya D
- Amin, Viren R
- Kitchener, Rebecca L
- Vela-Amieva, Marcela
- Naylor, Edwin W
- Bhattacharjee, Arindam
Producer: 20200729
In:
Clinica chimica acta; international journal of clinical chemistry vol. 501
Availability: No items available.
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72.
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73.
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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. [electronic resource] by
- Ensenauer, Regina
- Vockley, Jerry
- Willard, Jan-Marie
- Huey, Joseph C
- Sass, Jörn Oliver
- Edland, Steven D
- Burton, Barbara K
- Berry, Susan A
- Santer, René
- Grünert, Sarah
- Koch, Hans-Georg
- Marquardt, Iris
- Rinaldo, Piero
- Hahn, Sihoun
- Matern, Dietrich
Producer: 20050204
In:
American journal of human genetics vol. 75
Availability: No items available.
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74.
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75.
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Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. [electronic resource] by
- Hertecant, Jozef L
- Ben-Rebeh, Imen
- Marah, Muhaned A
- Abbas, Thikra
- Ayadi, Leila
- Ben Salem, Salma
- Al-Jasmi, Fatma A
- Al-Gazali, Lihadh
- Al-Yahyaee, Said A
- Ali, Bassam R
Producer: 20130425
In:
European journal of medical genetics vol. 55
Availability: No items available.
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