De novo tandem duplication 17p11 leads to cen

UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003-2013).

Clinical genetics·2018

Trisomy 21 mosaicism: we may all have a touch of Down syndrome.

Cytogenetic and genome research·2013

Is telomere length in peripheral blood lymphocytes correlated with cancer susceptibility or radiosensitivity?

British journal of cancer·2007

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics.

Journal of medical genetics·2007

Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells.

Cytogenetic and genome research·2004

The initiation of homologous chromosome synapsis in mouse fetal oocytes is not directly driven by centromere and telomere clustering in the bouquet.

Cytogenetic and genome research·2004

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

Age at first sexual intercourse and frailty: Mendelian randomization and population-based evidence from NHANES and UK Biobank.

Sexual medicine·2026

Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India.

Cureus·2026

Two siblings with lipoid congenital adrenal hyperplasia: first reported case in Serbia and literature review.

Frontiers in endocrinology·2026

Comparative single-cell transcriptomics highlights species-biased developmental trajectories and candidate regulatory modules in primate spermatogenesis.

Reproductive biology·2026

Characteristics of Monozygotic Twins Discordant for Anorexia Nervosa: Comprehensive Risk Evaluation for Anorexia Nervosa in Twins (CREAT) Study.

European eating disorders review : the journal of the Eating Disorders Association·2026

Emerging molecular mechanisms of the ECM-exosome growth-plate axis in idiopathic short stature.

Frontiers in cell and developmental biology·2026

Related Experiment Videos

De novo tandem duplication 17p11 leads to cen

Related Concept Videos

UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003-2013).

Trisomy 21 mosaicism: we may all have a touch of Down syndrome.

Is telomere length in peripheral blood lymphocytes correlated with cancer susceptibility or radiosensitivity?

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics.

Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells.

The initiation of homologous chromosome synapsis in mouse fetal oocytes is not directly driven by centromere and telomere clustering in the bouquet.

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.

Age at first sexual intercourse and frailty: Mendelian randomization and population-based evidence from NHANES and UK Biobank.

Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India.

Two siblings with lipoid congenital adrenal hyperplasia: first reported case in Serbia and literature review.

Comparative single-cell transcriptomics highlights species-biased developmental trajectories and candidate regulatory modules in primate spermatogenesis.

Characteristics of Monozygotic Twins Discordant for Anorexia Nervosa: Comprehensive Risk Evaluation for Anorexia Nervosa in Twins (CREAT) Study.

Emerging molecular mechanisms of the ECM-exosome growth-plate axis in idiopathic short stature.

Related Experiment Videos

De novo tandem duplication 17p11 leads to cen

Related Concept Videos

Related Articles