Search

Your search keyword '"Pereira, M.B."' showing total 42 results

Search Constraints

Start Over You searched for: Author "Pereira, M.B." Remove constraint Author: "Pereira, M.B."
42 results on '"Pereira, M.B."'

Search Results

1. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

2. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

3. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

4. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

5. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

6. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

7. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

9. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

11. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

18. Biallelic variants in KARS1are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

26. Características cinemáticas de potros da raça Brasileiro de Hipismo nos sucessos e insucessos dos saltos em liberdade

41. Immunohistochemical study of the expression of MUC5AC and MUC6 in breast carcinomas and adjacent breast tissues

Catalog

Books, media, physical & digital resources