"Microcytogenetics" and Langer-Giedion syndrome

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

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Journal of medical genetics·2026

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·2026

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Journal of medical genetics·2026

NeuroCon-AutismNet: a privacy-preserving multimodal framework toward autism screening via diffusion-regularized EEG biomarkers and empathy-aware multilingual dialogue.

Frontiers in psychiatry·2026

Early-pregnancy ALT, AST, and GGT in relation to gestational diabetes: a GGT-focused association pattern.

Frontiers in endocrinology·2026

Toward a Context-Aware Geroscience: Integrating Structural and Social Context into Aging Biology.

The Gerontologist·2026

Interplay between PNPLA3 genotype, liver steatosis, and cardiac remodeling in young adults: A magnetic resonance imaging study.

Physiological reports·2026

Active transport by cytoplasmic dynein sustains dendritic MAP2 localization in developing neurons.

The Journal of biological chemistry·2026

BAP1 and UTX are dispensable for transcription-driven Polycomb erasure but essential for enhancer establishment.

The Journal of biological chemistry·2026

Related Experiment Videos

"Microcytogenetics" and Langer-Giedion syndrome

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.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

NeuroCon-AutismNet: a privacy-preserving multimodal framework toward autism screening via diffusion-regularized EEG biomarkers and empathy-aware multilingual dialogue.

Early-pregnancy ALT, AST, and GGT in relation to gestational diabetes: a GGT-focused association pattern.

Toward a Context-Aware Geroscience: Integrating Structural and Social Context into Aging Biology.

Interplay between PNPLA3 genotype, liver steatosis, and cardiac remodeling in young adults: A magnetic resonance imaging study.

Active transport by cytoplasmic dynein sustains dendritic MAP2 localization in developing neurons.

BAP1 and UTX are dispensable for transcription-driven Polycomb erasure but essential for enhancer establishment.

Related Experiment Videos

"Microcytogenetics" and Langer-Giedion syndrome

Related Concept Videos

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