27 results on '"Rodríguez-García, María-Elena"'
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2. Expanding the genetic and phenotypic spectrum of Baker–Gordon syndrome: a new de novo SYT1 variant
3. A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
4. Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
5. New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient
6. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
7. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1splicing variants in 2 novel individuals
8. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation
9. An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
10. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy
11. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
12. A novel de novo variant in CASKcauses a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
13. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
14. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
15. MAST1 variant causes mega‐corpus‐callosum syndrome with cortical malformations but without cerebellar hypoplasia
16. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
17. Hepcidin treatment in Hfe−/− mice diminishes plasma iron without affecting erythropoiesis
18. A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
19. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
20. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
21. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
22. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
23. A novel de novo MTORgain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
24. Correction: A novel de novo variant in CASKcauses a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
25. Papel de p38-MAPK en el proceso de apoptosis inducido por cisplatino en células epiteliales de túbulo renal
26. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novoNR2F1gene mutation
27. Hepcidin treatment in Hfe−/− mice diminishes plasma iron without affecting erythropoiesis.
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