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30 results on '"Carmen Alaez Verson"'

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1. Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications

2. Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population

3. Profiling FLT3 Mutations in Mexican Acute Myeloid Leukemia Pediatric Patients: Impact on Overall Survival

4. Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families

5. IKZF1plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia

6. CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

7. Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in PAX5. The first report in Mexico

8. ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

10. Discovery and validation of dominantly Inherited Alzheimer’s Disease mutations in populations from Latin America

11. Rapid Identification of Drug Resistance and Phylogeny in M. tuberculosis, Directly from Sputum Samples

12. Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes

13. Mutational Landscape of

14. Low Prevalence of

15. Prevalence of HRR gene mutations in patients with metastatic castration-resistant prostate cancer: Germline results from the Latin-American observational study PROSPECT

16. Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele

17. Clinical and genetic description of patients with prenatally identified cardiac tumors

18. Development and Validation of a One-Step RT-qPCR Assay for Identifying Common Fusion Gene Transcripts Associated with the Prognosis of Mexican Children with B-Lineage Acute Lymphoblastic Leukemia

19. Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

20. Cognitive profile and motor phenotype in Mexican patients with familial early onset Alzheimer disease with the p. Ala431Glu variant of the PSEN1 gene

21. Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin

22. Profiling

23. Targeted next generation sequencing identified a high frequency genetic mutated profile in wood smoke exposure-related lung adenocarcinoma patients

24. Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

25. Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

26. Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population

27. In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing

28. P2.02-006 Targeted Next Generation Sequencing Reveals Prognostic Recurrent Somatic Mutations in the GNAQ Oncogene in NSCLC

29. HPV-16 and HLA-DRB1 alleles are associated with cervical carcinoma in Mexican Mestizo women

30. Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

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