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Publications by Maria Elena Caldana

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

Journal of Bone and Mineral Research

English

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IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Allergy, Asthma and Clinical Immunology

English

A Case of the Mosaicism in the Silkworm Egg, Probably Due to a Recessive Mutation

The Japanese journal of genetics

1942

English

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

English

Inhaled Combined Budesonide-Formoterol as Needed in Mild AsthmaAs Needed Budesonide-Formoterol Versus Maintenance Budesonide in Mild Asthma

English

A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Identification of a Novel Function of CX-4945 as a Splicing Regulator

PLoS ONE

Multidisciplinary

2014

English

Intragenic Deletion as a Novel Type of Mutation in Wolman Disease

Molecular Genetics and Metabolism

English

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Maria Elena Caldana

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

Related publications

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

A Case of the Mosaicism in the Silkworm Egg, Probably Due to a Recessive Mutation

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

Inhaled Combined Budesonide-Formoterol as Needed in Mild AsthmaAs Needed Budesonide-Formoterol Versus Maintenance Budesonide in Mild Asthma

A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation

Identification of a Novel Function of CX-4945 as a Splicing Regulator

Intragenic Deletion as a Novel Type of Mutation in Wolman Disease

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier