Rare Genetic Disorders - Biotechnology

Relevant Publications

Inflammatory myofibroblastic tumor from molecular diagnostics to current treatment.

Issue Release: 2024

Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.

Issue Release: 2024

[Sperm Mosaic Variants and Their Influence on the Offspring].

Issue Release: 2024

Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Issue Release: 2024

Partial lipodystrophy: Clinical presentation and treatment.

Issue Release: 2024

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Issue Release: 2024

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

Issue Release: 2024

A term infant with severe hypereosinophilia secondary to CMV infection and the STAT1 gene mutation: a case report : List of authors.

Issue Release: 2024

Closing the gap: An urgent need for newborn screening of organic acid disorders in developing countries.

Issue Release: 2024

Considerations for the development of iPSC-derived cell therapies: a review of key challenges by the JSRM-ISCT iPSC Committee.

Issue Release: 2024

Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort.

Issue Release: 2024

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.

Issue Release: 2024

Structural Insights into the Mechanisms Underlying Polyaminopathies.

Issue Release: 2024

Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis.

Issue Release: 2024

The Molecular Landscape of Premature Aging Diseases Defined by Multilayer Network Exploration.

Issue Release: 2024

[Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene].

Issue Release: 2024

Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a -associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

Issue Release: 2024

A Case of Chronic Granulomatous Disease Masquerading As Tubercular Lymphadenitis in an Infant.

Issue Release: 2024

Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging.

Issue Release: 2024

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene.

Issue Release: 2024

How is Genetic Material Used in Biotechnology?

How Do GMOs Contribute to Ecosystem Disruption?

What Methods are Used for Control?

How is Gene Cloning Regulated?

What is the Future Outlook?

What are Omics Technologies?

How Does Biotechnology Affect Soil and Water Ecology?

What is Biomass?

Who Regulates Biotechnology?

How Is Bioinformatics Applied in Personalized Medicine?

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