Concepedia

Jaime Toral‐López

JT

7

Publications

105

Citations

7

H-Index

2008

Active since

Affiliations

Hospital General de México(Current)

Universidad Nacional Autónoma de México

Jaime Toral‐López is an author at Hospital General de México specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2008–2020

7

Publications

7

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

Charlotte J. Marshall, Jaime Toral‐López, Laura Crookes et al. · Gene · 2016 · 25 citations

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Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

Jaime Toral‐López, Luz María González-Huerta, Olga Messina‐Baas et al. · World Journal of Clinical Cases · 2020 · 17 citations · Full text

Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome

Jaime Toral‐López, Luz María González-Huerta, S.A. Cuevas-Covarrubias · British Journal of Dermatology · 2008 · 15 citations

Familial Pycnodysostosis: Identification of a Novel Mutation in the CTSK Gene (Cathepsin K)

Jaime Toral‐López, Luz María González-Huerta, Blanca Sosa et al. · Journal of Investigative Medicine · 2011 · 14 citations

, , +13

Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).

Jaime Toral‐López, Luz María González-Huerta, Blanca Sosa et al. · PubMed · 2011 · 13 citations

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