The frequency of mental retardation in hypochondroplasia

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Clinical genetics·2009

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Animal genetics·2008

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Cardiology·2008

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

Heart (British Cardiac Society)·2008

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Neurology·2008

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

American journal of human genetics·2007

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

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

Insurance Authorizations in Pediatric Disorders of Gut-Brain Interaction Treated With Auricular Neuromodulation: A Tertiary Center Experience.

Neuromodulation : journal of the International Neuromodulation Society·2026

Severe self-injury in a young girl with autism spectrum disorder and Helsmoortel-van der Aa syndrome responding to naltrexone.

Psychiatric genetics·2026

Radiographic and clinical factors associated with open reduction in pediatric supracondylar humerus fractures.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTES·2026

Absolute Risk of Anterior Cruciate Ligament Graft Reruptures From the Posterior Tibial Slope Falls With Increasing Age: A Risk Stratification Analysis.

The American journal of sports medicine·2026

Single-Visit Screening-Positive Blood Pressure Among School-Going Adolescents in Coimbatore, South India: A Cross-Sectional Study.

Cureus·2026

Plate Versus Nail Fixation in Periprosthetic Distal Femur Fractures: An Updated Systematic Review and Meta-Analysis.

HSS journal : the musculoskeletal journal of Hospital for Special Surgery·2026

Related Experiment Videos

The frequency of mental retardation in hypochondroplasia

Related Concept Videos

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

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Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

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