Short report on DNA markers at candidate loci. Two new polymorphisms in the BRCA 1 gene

Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study.

ESMO open·2025

Haploidentical IL-15/41BBL activated and expanded natural killer cell infusion therapy after salvage chemotherapy in children with relapsed and refractory leukemia.

Cancer letters·2018

Pathology of Naturally Occurring Bacillary Hemoglobinuria in Cattle.

Veterinary pathology·2017

Post-lunch triglyceridaemia associates with HDLc and insulin resistance in fasting normotriglyceridaemic menopausal women.

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association·2017

Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context.

Endocrine pathology·2013

[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica·2012

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

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

Clinical genetics·2026

Widespread male-female expression imbalance of X-linked genes across phrynosomatid lizards.

Molecular biology and evolution·2026

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

Brain communications·2026

Disrupting peripheral serotonin synthesis drives sex-specific alterations in sociability and cognition, and reshapes the gut-immune-brain axis.

Brain, behavior, and immunity·2026

Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.

Legal medicine (Tokyo, Japan)·2026

LINE-1 repeats are a defining feature of the Xce.

Proceedings of the National Academy of Sciences of the United States of America·2026

A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

JCI insight·2026

Related Experiment Videos

Short report on DNA markers at candidate loci. Two new polymorphisms in the BRCA 1 gene

Related Concept Videos

Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study.

Haploidentical IL-15/41BBL activated and expanded natural killer cell infusion therapy after salvage chemotherapy in children with relapsed and refractory leukemia.

Pathology of Naturally Occurring Bacillary Hemoglobinuria in Cattle.

Post-lunch triglyceridaemia associates with HDLc and insulin resistance in fasting normotriglyceridaemic menopausal women.

Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context.

[Hirschsprung's disease and medullary carcinoma of the thyroids: two diseases in a monogenetic disorder].

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

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

Widespread male-female expression imbalance of X-linked genes across phrynosomatid lizards.

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

Disrupting peripheral serotonin synthesis drives sex-specific alterations in sociability and cognition, and reshapes the gut-immune-brain axis.

Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.

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A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

Related Experiment Videos

Short report on DNA markers at candidate loci. Two new polymorphisms in the BRCA 1 gene

Related Concept Videos

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