7 results on '"Ploski, Rafal"'
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2. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
3. A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report
4. Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15
5. Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review
6. Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation
7. Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
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