A photometer used for diagnosing a small-sized 4p deletion in Wolf syndrome

Characteristics of large granular lymphocyte leukemia associated with variable common immunodeficiency disorders: A study of 12 cases.

European journal of haematology·2024

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels.

ESMO open·2022

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

Annals of oncology : official journal of the European Society for Medical Oncology·2019

The new buzz: Investigating the antimicrobial interactions between bioactive compounds found in South African propolis.

Journal of ethnopharmacology·2019

CCL22 is a biomarker of cartilage injury and plays a functional role in chondrocyte apoptosis.

Cytokine·2019

Different Time Scales in the Dissociation Dynamics of Core-Excited CF_{4} by Two Internal Clocks.

Physical review letters·2017

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Spatial Genetic Mapping of Normal Human Prostate Tissue Identifies Epithelial Compartments Enriched for Prostate Cancer Association.

Molecular carcinogenesis·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Related Experiment Videos

A photometer used for diagnosing a small-sized 4p deletion in Wolf syndrome

Related Concept Videos

Characteristics of large granular lymphocyte leukemia associated with variable common immunodeficiency disorders: A study of 12 cases.

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels.

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

The new buzz: Investigating the antimicrobial interactions between bioactive compounds found in South African propolis.

CCL22 is a biomarker of cartilage injury and plays a functional role in chondrocyte apoptosis.

Different Time Scales in the Dissociation Dynamics of Core-Excited CF_{4} by Two Internal Clocks.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Spatial Genetic Mapping of Normal Human Prostate Tissue Identifies Epithelial Compartments Enriched for Prostate Cancer Association.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Related Experiment Videos

A photometer used for diagnosing a small-sized 4p deletion in Wolf syndrome

Related Concept Videos

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