Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...
The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions ...
Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond the exome’ in regular care ...
Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends ...
Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing ...
Correspondence to Hildegard Kehrer-Sawatzki, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany; hildegard.kehrer-sawatzki{at}uni-ulm.de Conclusion These ...
A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy ...
* Department of Pathology, West Virginia University, PO Box 9203, Morgantown, WV 26506-9203, USA †Department of Obstetrics/Gynecology, West Virginia University, Morgantown, WV, USA ‡ Department of ...
Correspondence to Dr Guoan Zhao, The Cardiovascular ResearchCenter of the First Affiliated Hospital of Xinxiang Medical University, Xinxiang City 453003, China; zhaoguoan16{at}126.com Heart failure, ...
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...
1 Divison of Pediatric Hematology-Oncology, Department Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria 2 Divison of Neonatology, Paediatric Intensive Care & Neuropaediatrics ...
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