6 results on '"Marwaha, Ashish"'
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2. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder
3. The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning
4. Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome
5. Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy
6. Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation
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