Di Guglielmo syndrome in a t(DgDg) heterozygote

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

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

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

Diagnostic classification of children and adolescents with high-functioning autism spectrum disorder based on brain functional network characteristics of the dense individualized and common connectivity-based cortical landmark model.

Frontiers in psychiatry·2026

Single-Cell and Single-Embryo RNA Sequencing.

Methods in molecular biology (Clifton, N.J.)·2026

Triple sex marker failure in male DNA: AMELY, Y-InDel, and terminal Yq deletion resolved by integrated STR/NGS analysis.

Forensic science international. Genetics·2026

Timeline of sex differentiation and stabilization in zebrafish: Interplay between methyl-sensitive transcription factors, prostaglandin-related genes and DNA methylation.

European journal of cell biology·2026

Related Experiment Videos

Di Guglielmo syndrome in a t(DgDg) heterozygote

Related Concept Videos

Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

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.

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.

Diagnostic classification of children and adolescents with high-functioning autism spectrum disorder based on brain functional network characteristics of the dense individualized and common connectivity-based cortical landmark model.

Single-Cell and Single-Embryo RNA Sequencing.

Triple sex marker failure in male DNA: AMELY, Y-InDel, and terminal Yq deletion resolved by integrated STR/NGS analysis.

Timeline of sex differentiation and stabilization in zebrafish: Interplay between methyl-sensitive transcription factors, prostaglandin-related genes and DNA methylation.

Related Experiment Videos

Di Guglielmo syndrome in a t(DgDg) heterozygote

Related Concept Videos

Related Articles