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Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.

Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.

Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene.

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.

Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy.

Outcome of atypical haemolytic uraemic syndrome relapse after eculizumab withdrawal.

Somatic and Germline BRCA 1 and 2 Mutations in Advanced NSCLC From the SAFIR02-Lung Trial.

The analysis of echocardiographic results in patients suffering from epidermolysis bullosa.

Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.

An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene.

An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene.

Genetic characterization of the Albanian Gaucher disease patient population.

Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.