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Publications by D Beltran-Valero de Bernabe
Mutations in the FKRP Gene Can Cause Muscle-Eye-Brain Disease and Walker-Warburg Syndrome
Journal of Medical Genetics
Genetics
Related publications
Expression of the Murine Pomt1 Gene in Both the Developing Brain and Adult Muscle Tissues and Its Relationship With Clinical Aspects of Walker-Warburg Syndrome
American Journal of Pathology
Forensic Medicine
Pathology
Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice With Mutations in the FKRP Gene
Molecular Therapy - Methods and Clinical Development
Molecular Medicine
Genetics
Molecular Biology
Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
American Journal of Human Genetics
Genetics
POMGnT1 Mutation and Phenotypic Spectrum in Muscle-Eye-Brain Disease
Journal of Medical Genetics
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Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
Genetics
TNXB Mutations Can Cause Vesicoureteral Reflux
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
American Journal of Human Genetics
Genetics
An Anomalous Muscle in the Hand That Can Cause Carpal Tunnel Syndrome: A Case Report
OA Case Reports
