A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype

Search for Double Beta Decays of ^{134}Xe with EXO-200 Phase II.

Physical review letters·2026

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia.

JIMD reports·2026

Stability and Cooling of the C_{7}^{2-} Dianion.

Physical review letters·2023

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

European journal of medical genetics·2022

Measurement of the Spectral Shape of the β-Decay of ^{137}Xe to the Ground State of ^{137}Cs in EXO-200 and Comparison with Theory.

Physical review letters·2020

Spontaneous Electron Emission from Hot Silver Dimer Anions: Breakdown of the Born-Oppenheimer Approximation.

Physical review letters·2020

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Frontiers in cell and developmental biology·2026

Somatic Cells in the Anuran Testis.

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

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

Genome biology and evolution·2026

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

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

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

Frontiers in endocrinology·2026

[Genetic Dystonias].

Medicina·2026

Related Experiment Videos

A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype

Related Concept Videos

Search for Double Beta Decays of ^{134}Xe with EXO-200 Phase II.

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia.

Stability and Cooling of the C_{7}^{2-} Dianion.

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Measurement of the Spectral Shape of the β-Decay of ^{137}Xe to the Ground State of ^{137}Cs in EXO-200 and Comparison with Theory.

Spontaneous Electron Emission from Hot Silver Dimer Anions: Breakdown of the Born-Oppenheimer Approximation.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Somatic Cells in the Anuran Testis.

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

[Genetic Dystonias].

Related Experiment Videos

A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype

Related Concept Videos

Related Articles