1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

3 NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology ...

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...

3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...

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 ...

Background Ovarian clear cell carcinoma (OCCC) arises from endometriosis and represents a difficult-to-treat gynaecological malignancy, in part, because its spatial intratumour heterogeneity and ...

A formula to calculate recurrence risk for germline mosaicism published by Hartl in 1971 has been updated to include marker information. For practical genetic counselling new, more elaborate tables ...

1 Faculty of Medical and Health Sciences, The University of Auckland, Auckland 1001, New Zealand 2 School of Biological Sciences, University of Auckland, Auckland ...

Correspondence to Dr Hidenobu Soejima, Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga 849-8501, Japan; soejimah{at}cc.saga ...

1 Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan 2 Department of Laboratory Medicine, Kumamoto University School of Medicine, Kumamoto, Japan ...

1 Department of Medical Genetics & UMR-INERIS, Centre Hospitalo-Universitaire et Faculté de Médecine, Amiens, France 2 Department of Hepato-Gastroenterologie, Centre Hospitalo-Universitaire et Faculté ...

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 ...