Whole Exome Sequencing (wes) - Histology

Relevant Publications

[Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome].

Issue Release: 2024

[Genetic analysis of a child with Dyschromatosis symmetrica hereditaria].

Issue Release: 2024

[Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene].

Issue Release: 2024

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

Issue Release: 2024

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

Issue Release: 2024

Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.

Issue Release: 2024

Whole-exome sequencing identifies high-confidence genes for tic disorders in a Chinese Han population.

Issue Release: 2024

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Issue Release: 2024

The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital.

Issue Release: 2024

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.

Issue Release: 2024

Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.

Issue Release: 2024

Unraveling the Impact of the PROCA1 Mutation in Male Infertility: Incorporating Whole Exome Sequencing in Teratozoospermia Patients and Analyzing Proca1 Knockout Mice.

Issue Release: 2024

Differential diagnosis of Huntington\'s disease- neurological aspects of NKX2-1-related disorders.

Issue Release: 2024

Frequency-dependent selection of neoantigens fosters tumor immune escape and predicts immunotherapy response.

Issue Release: 2024

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.

Issue Release: 2024

Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.

Issue Release: 2024

Whole-exome sequencing of atypical parathyroid tumors detects novel and common genes linked to parathyroid tumorigenesis.

Issue Release: 2024

Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.

Issue Release: 2024

[Analysis of clinical characteristics and variant of NKX2-1 gene in a Chinese boy with Brain-Lung-Thyroid syndrome].

Issue Release: 2024

[Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13].

Issue Release: 2024

How is GABA studied in Histology?

What is Automatic Voltage Regulation (AVR)?

What are Embryonic Stem Cells?

What is the Structure of Paneth Cells?

How has histology advanced our knowledge of infectious diseases?

How is Anaplasia Detected?

What are Ecchymoses?

What are the Consequences of Untreated Metabolic Imbalances?

What is Rheumatoid Factor?

What is the endoderm?

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