Anticipation in progressive diaphyseal dysplasia

Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.

Human genetics·2002

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

American journal of medical genetics·2000

Schimke immuno-osseous dysplasia: case report and review of 25 patients.

Journal of medical genetics·1999

Robinow syndrome in monozygotic twins with normal stature.

Clinical dysmorphology·1999

Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity.

American journal of medical genetics·1997

First report of glaucoma as a feature of the 3C syndrome.

Clinical dysmorphology·1995

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

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Between experience and measurement: masters athletes' perceptions of the 5Cs and a proposed measure.

Frontiers in sports and active living·2026

Differences in eating disorder pathology among college students who engage in food and alcohol disturbance for specific motives and those who only drink alcohol.

Eating behaviors·2026

Unmasking Ketosis-Prone Diabetes in a Young Adult.

Cureus·2026

The Effects of Aerobic Exercise on Pediatric Headache-Related Disability and Quality of Life: A Pilot Randomized Controlled Trial.

Journal of child neurology·2026

Preoperative coronal plane alignment of the knee phenotype does not predict patient-reported outcomes after medial opening-wedge high tibial osteotomy.

Journal of ISAKOS : joint disorders & orthopaedic sports medicine·2026

Postnatal Pax7-expressing limb cells are multipotent and generate non-myogenic lineages that persist into adulthood.

Developmental cell·2026

Related Experiment Videos

Anticipation in progressive diaphyseal dysplasia

Related Concept Videos

Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

Schimke immuno-osseous dysplasia: case report and review of 25 patients.

Robinow syndrome in monozygotic twins with normal stature.

Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity.

First report of glaucoma as a feature of the 3C syndrome.

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.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Between experience and measurement: masters athletes' perceptions of the 5Cs and a proposed measure.

Differences in eating disorder pathology among college students who engage in food and alcohol disturbance for specific motives and those who only drink alcohol.

Unmasking Ketosis-Prone Diabetes in a Young Adult.

The Effects of Aerobic Exercise on Pediatric Headache-Related Disability and Quality of Life: A Pilot Randomized Controlled Trial.

Preoperative coronal plane alignment of the knee phenotype does not predict patient-reported outcomes after medial opening-wedge high tibial osteotomy.

Postnatal Pax7-expressing limb cells are multipotent and generate non-myogenic lineages that persist into adulthood.

Related Experiment Videos

Anticipation in progressive diaphyseal dysplasia

Related Concept Videos

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