Found: 2
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P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, p. S34, doi. 10.1017/cjn.2019.175
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- Publication type:
- Article
Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.
- Published in:
- 2008
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- Publication type:
- journal article