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29 results on '"Elena Domínguez-Garrido"'

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1. Novel risk loci for COVID-19 hospitalization among admixed American populations

2. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

4. Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

5. Education and information needs for physicians about rare diseases in Spain

6. Battle of Thermopylae: 300 Spartans (natural killer cells plus obinutuzumab) versus the immortal warriors (chronic lymphocytic leukemia cells) of Xerxes’ army

7. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

8. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

9. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

10. A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data

11. Mitochondrial genetic effect on atrial fibrillation: A case-control study

12. Education and information needs for physicians about rare diseases in Spain

13. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

14. Battle of Thermopylae: 300 Spartans (natural killer cells plus obinutuzumab) versus the immortal warriors (chronic lymphocytic leukemia cells) of Xerxes’ army

15. Ideación suicida en una muestra representativa de adolescentes españoles

16. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

17. Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

18. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

19. Obinutuzumab induces depletion of NK cells in patients with chronic lymphocytic leukemia

20. Suicidal ideation in a community-derived sample of Spanish adolescents

21. First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

22. Recommendations for the use of microarrays in prenatal diagnosis

23. A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer

24. Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations

25. Digital droplet PCR on disk

26. A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency

27. Recomendaciones para el uso de microarrays en el diagnóstico prenatal

28. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

29. Identifying extended psychosis phenotypes at school: Associations with socio-emotional adjustment, academic, and neurocognitive outcomes.

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