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Publications by Marta Gandía
A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment
PLoS ONE
Multidisciplinary
Early Detection of Lysosomal Diseases by Screening of Cases of Idiopathic Splenomegaly and/or Thrombocytopenia With a Next‐generation Sequencing Gene Panel
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
A Novel De Novo Mutation in CEACAM16 Associated With Postlingual Hearing Impairment
Molecular Syndromology
Genetics
A Common Founder for the 35delG GJB2 Gene Mutation in Connexin 26 Hearing Impairment
Journal of Medical Genetics
Genetics
Prevalence of Cx26 (GJB2) Gene Mutations Causing Recessive Nonsyndromic Hearing Impairment in India
International Journal of Human Genetics
Genetics
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
A Novel Biallelic Splice Site Mutation of TECTA Causes Moderate to Severe Hearing Impairment in an Algerian Family
International Journal of Pediatric Otorhinolaryngology
Medicine
Otorhinolaryngology
Pediatrics
Perinatology
Child Health
A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
Brazilian Journal of Medical and Biological Research
Immunology
Cell Biology
Pharmacology
Biochemistry
Biophysics
Neuroscience
Medicine
Toxicology
Physiology
Pharmaceutics
A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family
American Journal of Medical Genetics, Part A
Genetics
Frequency of C.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients With Nonsyndromic Hearing Impairment
Genetics Research International
Genetics
Molecular Biology
Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome
Diagnostic Pathology
Forensic Medicine
Medicine
Pathology
Histology
