The Human Phenotype Ontology in 2024: phenotypes around the world
2023 · Nucleic Acids Research · 337 citations
https://doi.org/10.1093/nar/gkad1005
V
Víctor Martínez‐Glez
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Víctor Martínez‐Glez is an academic researcher from Universitat Autònoma de Barcelona. The author has contributed to research in topics: Vascular Malformations and Hemangiomas & Tumors and Oncological Cases & Neurofibromatosis and Schwannoma Cases. The author has an h-index of 33, co-authored 97 publications.
ORCID: 0000-0002-4680-881XPapers by this author
worksA deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
2009 · BMC Medical Genetics · 68 citations
https://doi.org/10.1186/1471-2350-10-48
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
2013 · American Journal of Medical Genetics Part A · 55 citations
https://doi.org/10.1002/ajmg.a.35938
A standard of care for individuals with <scp> <i>PIK3CA</i> </scp> ‐related disorders: An international expert consensus statement
2021 · Clinical Genetics · 53 citations
https://doi.org/10.1111/cge.14027
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