Francisco Sanchez

Albacete, CM 02008, Spain

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications

Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.

Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.

Journal: International journal of molecular sciences
Published: May 28, 2026

Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted.

Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted.

Journal: Frontiers in pediatrics
Published: February 04, 2026

Comparison of sterilisation methods for deer velvet antler extracts and their impact on anticancer activity.

Comparison of sterilisation methods for deer velvet antler extracts and their impact on anticancer activity.

Journal: Frontiers in pharmacology
Published: January 07, 2026

Optimizing protein yield from growing deer antlers.

Optimizing protein yield from growing deer antlers.

Journal: Frontiers in bioengineering and biotechnology
Published: April 15, 2025

Self-Renewal Inhibition in Breast Cancer Stem Cells: Moonlight Role of PEDF in Breast Cancer.

Self-Renewal Inhibition in Breast Cancer Stem Cells: Moonlight Role of PEDF in Breast Cancer.

Journal: Cancers
Published: September 19, 2023

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

Journal: Frontiers in genetics
Published: July 28, 2022

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

Journal: Journal of autism and developmental disorders
Published: April 23, 2022

Pedf derived peptides affect colorectal cancer cell lines resistance and tumour re-growth capacity.

Pedf derived peptides affect colorectal cancer cell lines resistance and tumour re-growth capacity.

Journal: Oncotarget
Published: March 19, 2018

Molecular and neurochemical substrates of the audiogenic seizure strains: The GASH:Sal model.

Molecular and neurochemical substrates of the audiogenic seizure strains: The GASH:Sal model.

Journal: Epilepsy & behavior : E&B
Published: March 31, 2015

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

Journal: PloS one
Published: September 25, 2014

Nonsense-mediated decay: paving the road for genome diversification.

Nonsense-mediated decay: paving the road for genome diversification.

Journal: BioEssays : news and reviews in molecular, cellular and developmental biology
Published: September 19, 2008

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Journal: Human mutation
Published: September 22, 2006
Showing 1-12 of 12

Last Updated: 09/26/2026