21 results on '"Morava E"'
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2. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
3. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
4. Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.
5. Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
6. Mitochondrial disease criteria: diagnostic applications in children.
7. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
8. Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
9. Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.
10. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.
11. Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.
12. Defective protein glycosylation in patients with cutis laxa syndrome.
13. Screening for CDG type Ia in Joubert syndrome.
14. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
15. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.
16. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.
17. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.
18. Tall stature and progressive overweight in mitochondrial encephalopathy.
19. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.
20. A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion.
21. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.
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