Endoreduplications in a family with a reciprocal translocation (9q;16p)

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

Scientific reports·2022

Enhanced biofilm solubilization by urea in reverse osmosis membrane systems.

Water research X·2019

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

The British journal of dermatology·2017

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Breast cancer research and treatment·2016

Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.

Breast cancer research and treatment·2014

Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.

Journal of gastroenterology·2014

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

Whole-brain chemosensory responses of both C. elegans sexes.

Current biology : CB·2026

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.

Clinical case reports·2026

Sex-specific differences in pancreatic α-cell function.

Frontiers in endocrinology·2026

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

Human mutation·2026

The genome sequence of a caddisfly, Limnephilus rhombicus (Linnaeus, 1758).

Wellcome open research·2026

Related Experiment Videos

Endoreduplications in a family with a reciprocal translocation (9q;16p)

Related Concept Videos

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

Enhanced biofilm solubilization by urea in reverse osmosis membrane systems.

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.

Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X.

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?

Whole-brain chemosensory responses of both C. elegans sexes.

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.

Sex-specific differences in pancreatic α-cell function.

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

The genome sequence of a caddisfly, Limnephilus rhombicus (Linnaeus, 1758).

Related Experiment Videos

Endoreduplications in a family with a reciprocal translocation (9q;16p)

Related Concept Videos

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