Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome)

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Clinical genetics·2016

Dysmorphology services: a snapshot of current practices and a vision for the future.

Clinical genetics·2015

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Clinical genetics·2014

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

European journal of neurology·2013

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical genetics·2012

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.

Clinical genetics·2011

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

Global trends and evidence on dyslipidemia in ischemic stroke: An integrative scientometric and meta-analytic review.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University·2026

Long-Term Mortality in Diabetic Foot Disease is Higher Than That of Overall Cancer: Results From Three International Cohorts.

Diabetes/metabolism research and reviews·2026

Region and phase-specific diffusion tensor imaging dynamics in Japanese encephalitis: A linear mixed-effects analysis.

The neuroradiology journal·2026

Best Evidence Summary of Brain Function Monitoring and Management in Patients Receiving Extracorporeal Membrane Oxygenation.

Nursing in critical care·2026

Mapping HIV infection and sex-based differences among sub-Saharan African migrants in Northeast Italy: a multicenter study.

Pathogens and global health·2026

Trends in Osteoporotic Humerus Fractures and Refractures, and Mortality Rates: Analysis of NHIS Claims Data From 2006-2022.

Journal of Korean medical science·2026

Related Experiment Videos

Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome)

Related Concept Videos

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report.

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

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

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.

Global trends and evidence on dyslipidemia in ischemic stroke: An integrative scientometric and meta-analytic review.

Long-Term Mortality in Diabetic Foot Disease is Higher Than That of Overall Cancer: Results From Three International Cohorts.

Region and phase-specific diffusion tensor imaging dynamics in Japanese encephalitis: A linear mixed-effects analysis.

Best Evidence Summary of Brain Function Monitoring and Management in Patients Receiving Extracorporeal Membrane Oxygenation.

Mapping HIV infection and sex-based differences among sub-Saharan African migrants in Northeast Italy: a multicenter study.

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Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome)

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