Search GLEAM-DB / CoGenEx-PM3

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies].

LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.

LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Outcomes of multigene panel testing for hereditary cancer in two Israeli medical centers 2013-2024.

[A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].

Normal Fertility of Dnajb13 (exon2 KO)/(exon2 c.106T > C Mut) Compound Heterozygous Mutant Male Mice.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease.

Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

Disrupted STIL-BRCA1 axis causes centrosome amplification and genomic instability.

Discovery of a Novel Phenyl Thiophene-3-carboxamide Derivative DZX19 as an Orally TRK Inhibitor with Potent Antitumor Effects.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis.

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.