Genotype Phenotype Correlation - Genetic Mutations

Relevant Publications

Defining the Genomic Landscape of Diffuse Sclerosing Papillary Thyroid Carcinoma: Prognostic Implications of RET Fusions.

Issue Release: 2024

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.

Issue Release: 2024

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

Issue Release: 2024

Targeted analysis of Ubiquitin-Specific Peptidase (USP8) in a population of Iranian people with Cushing\'s disease and a systematic review of the literature.

Issue Release: 2024

Retinal characteristics of female choroideremia carriers: Multimodal imaging, microperimetry and genetics.

Issue Release: 2024

CT imaging-derived phenotypes for abdominal muscle and their association with age and sex in a medical biobank.

Issue Release: 2024

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Issue Release: 2024

Patients with Thyroid Dyshormonogenesis and Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Issue Release: 2024

Genotype-Phenotype Correlation Model for the Spectrum of -Associated Albinism.

Issue Release: 2024

Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study.

Issue Release: 2024

Heterozygous variants in USP25 cause genetic generalized epilepsy.

Issue Release: 2024

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Issue Release: 2024

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Issue Release: 2024

Choroidal neovascularisation secondary toX-linked retinoschisis.

Issue Release: 2024

Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.

Issue Release: 2024

X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.

Issue Release: 2024

Long-term clinical observation of patients with heterozygous KIF1A variants.

Issue Release: 2024

Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.

Issue Release: 2024

Genotypic and phenotypic characterization of a cohort of patients affected by rod CNG channel-associated retinitis pigmentosa.

Issue Release: 2024

Clinical and genetic characteristics of myotonia congenita in Chinese population.

Issue Release: 2024

What Are the Future Directions in Sickle Cell Disease Research?

What are the Symptoms of Sickle Cell Anemia?

Can Mutations Be Treated or Reversed?

Can Genetic Testing Help in Identifying Asbestos-Related Risks?

How Do Point Mutations Occur?

How Does the Body Repair UV-Induced DNA Damage?

What is the Prognosis for Individuals with the Delta F508 Mutation?

Why is Prenatal Screening Important?

Why is Genetic Research Important?

What is Genetic Evolution?

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