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Publications by J.B. Ravnan

Identification of a Novel 14q13.3 Deletion Involving theSLC25A21Gene Associated With Familial Synpolydactyly

Molecular Syndromology

English

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Identification of Chromosomal Aberrations Associated With Disease Progression and a Novel 3q13.31 Deletion Involving LSAMP Gene in Osteosarcoma

International Journal of Oncology

Cancer Research

English

Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease

Neurobiology of Disease

English

A Novel mtDNA Deletion Associated With Primary Adrenal Insufficiency.† 594

Pediatric Research

English

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Frontiers in Physiology

English

Familial Multinodular Goiter and Sertoli-Leydig Cell Tumors Associated With a Large Intragenic In-Frame DICER1 Deletion

European Journal of Endocrinology

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Identification of Novel KIF11 Mutations in Patients With Familial Exudative Vitreoretinopathy and a Phenotypic Analysis

Scientific Reports

Multidisciplinary

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Clinical and Genomic Evaluation of a Chinese Patient With a Novel Deletion Associated With Phelan–McDermid Syndrome

English

Detection of a Novel Exon 4 Low-Density Lipoprotein Receptor Gene Deletion in a Swiss Family With Severe Familial Hypercholesterolemia

Clinical Chemistry and Laboratory Medicine

Clinical Biochemistry

English

Proteomic Identification of Novel Proteins Associated With Lewy Bodies

Frontiers in Bioscience - Landmark

Molecular Biology

English