Non-traditional forms of inheritance in skeletal dysplasias

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

Interface focus·2020

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Gene·2016

Biliglobulin: a new look at IgA.

Immunology today·2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical genetics·2013

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

Clinical genetics·2012

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

Neuroscience letters·2009

Quantifying human variability in pediatric bone age assessment: a multi-institutional multi-reader study and benchmark for AI evaluation.

Pediatric radiology·2026

Completely free-breathing cardiac MRI using deep learning reconstruction reduces sedation and scan time in children.

Pediatric radiology·2026

The ischium as a key anatomical landmark in the classification of persistent urogenital sinus anomalies.

Pediatric radiology·2026

Skeletal dysplasias of the parathyroid hormone signaling cascade: radiological manifestations and molecular mechanisms.

Pediatric radiology·2026

Performance of International Ovarian Tumor Analysis Simple Rules and Ovarian-Adnexal Reporting and Data System for classifying benign and malignant pediatric adnexal lesions using ultrasound.

Pediatric radiology·2026

Ultrasound evaluation of the upper airway in children: technique and applications.

Pediatric radiology·2026

Unusual Variants in NDUFAF6-Associated Mitochondrial Disease.

Rare (Amsterdam, Netherlands)·2026

GRIN-related epilepsy in Chinese pediatric patients: a retrospective study of clinical, genetic, and mutant protein structural features in a tertiary center cohort.

World journal of pediatrics : WJP·2026

Integrating transposable elements into blood gene regulatory networks reveals connectivity loss for schizophrenia genes.

The Journal of clinical investigation·2026

T-rex: standardized analysis of germline variants in whole-exome sequencing trios.

Scientific reports·2026

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.

EBioMedicine·2026

Targeting glycine transporter type 1 (GlyT1) in epilepsy: Pathophysiological rationale and therapeutic perspectives.

Pharmacology & therapeutics·2026

Related Experiment Videos

Non-traditional forms of inheritance in skeletal dysplasias

Related Concept Videos

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Biliglobulin: a new look at IgA.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

Quantifying human variability in pediatric bone age assessment: a multi-institutional multi-reader study and benchmark for AI evaluation.

Completely free-breathing cardiac MRI using deep learning reconstruction reduces sedation and scan time in children.

The ischium as a key anatomical landmark in the classification of persistent urogenital sinus anomalies.

Skeletal dysplasias of the parathyroid hormone signaling cascade: radiological manifestations and molecular mechanisms.

Performance of International Ovarian Tumor Analysis Simple Rules and Ovarian-Adnexal Reporting and Data System for classifying benign and malignant pediatric adnexal lesions using ultrasound.

Ultrasound evaluation of the upper airway in children: technique and applications.

Unusual Variants in NDUFAF6-Associated Mitochondrial Disease.

GRIN-related epilepsy in Chinese pediatric patients: a retrospective study of clinical, genetic, and mutant protein structural features in a tertiary center cohort.

Integrating transposable elements into blood gene regulatory networks reveals connectivity loss for schizophrenia genes.

T-rex: standardized analysis of germline variants in whole-exome sequencing trios.

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons.

Targeting glycine transporter type 1 (GlyT1) in epilepsy: Pathophysiological rationale and therapeutic perspectives.

Related Experiment Videos

Non-traditional forms of inheritance in skeletal dysplasias

Related Concept Videos

Related Articles