Related Experiment Videos
Muscle-eye-brain disease and Walker-Warburg syndrome
American Journal of Medical Genetics
|July 1, 1990
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
POLG1 manifestations in childhood.
Neurology·2011
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Journal of medical genetics·2009
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
Journal of endocrinological investigation·2009
Insufficient energy and nutrient intake in children with motor disability.
Acta paediatrica (Oslo, Norway : 1992)·2009
Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.
European journal of endocrinology·2007
Defects of blastogenesis.
American journal of medical genetics·2002
Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.
American journal of medical genetics·2002
Limb anomalies: Developmental and evolutionary aspects.
American journal of medical genetics·2002
Molecular etiology of gut malformations and diseases.
American journal of medical genetics·2002
Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).
American journal of medical genetics·2002
Three cases of tetrasomy 9p.
American journal of medical genetics·2002
Sodium-Glucose Cotransporter-2 Inhibitor Use and Outcomes Following Transcatheter Aortic Valve Replacement: A Propensity-Score Matched Analysis.
Critical pathways in cardiology·2026
Self-Amplifying AIE Probe for HClO-Activatable Imaging and Antioxidative/Anti-Inflammatory Therapy of Thoracic Aortic Dissection.
Angewandte Chemie (International ed. in English)·2026
Repurposing SGLT2 inhibitors in pulmonary arterial hypertension: A multi-center longitudinal pilot study demonstrating favorable effects on risk profile and ventricular coupling.
Therapeutic advances in respiratory disease·2026
Mycobacterium bovis BCG infection of the brain following intravesical BCG treatment.
ASM case reports·2026