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Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 02/2009, Volume 149A, Issue 2, pp. 216 - 225
Only a limited number of families with clear monogenic inheritance of nonsyndromic forms of congenital valve defects have been described. We describe two... 
Journal Article
Journal Article
2011, ISBN 9781849964708
Noncompaction of the left ventricle or noncompaction cardiomyopathy (NCCM) is a relatively new clinicopathologic entity, first described by Feldt et al. 
Human Genetics | Internal Medicine | Medicine & Public Health | Cardiology
Book Chapter
American Journal of Ophthalmology, ISSN 0002-9394, 1988, Volume 105, Issue 2, pp. 165 - 169
We examined ten patients from three families with von Hippel-Lindau disease and 26 of their at-risk relatives for the presence of twin vessels, defined as a... 
Eye Neoplasms - genetics | Humans | Middle Aged | Risk Factors | Eye Neoplasms - pathology | Ophthalmoscopy | Male | Angiomatosis - genetics | Retinal Vessels - abnormalities | Retinal Vessels - pathology | Pedigree | Angiomatosis - pathology | Adult | Female | Fundus Oculi | Retina - pathology | Fluorescein Angiography
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 02/2018, Volume 71, Issue 7, pp. 711 - 722
Journal Article
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 3, pp. 561 - 571
Journal Article
The Lancet Neurology, ISSN 1474-4422, 07/2018, Volume 17, Issue 7, pp. 597 - 608
Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The... 
DIAGNOSIS | MULTICENTER | MANAGEMENT | VPS35 | GLUCOCEREBROSIDASE MUTATIONS | ASSOCIATION | CLINICAL NEUROLOGY | FEATURES | REVEALS | Parkinson Disease - complications | Genome-Wide Association Study | Humans | Middle Aged | RNA, Messenger - genetics | Male | Dementia - epidemiology | Parkinson Disease - genetics | Dementia - genetics | LDL-Receptor Related Proteins - genetics | Lewy Body Disease - epidemiology | Pluripotent Stem Cells - metabolism | Dementia - etiology | Lewy Body Disease - genetics | Pedigree | Brain - pathology | Parkinson Disease - epidemiology | Family | Female | Heterozygote | Italy | RNA, Messenger - chemistry | Chromosomes, Human, Pair 14 - genetics | Genetic Linkage | Genetic research | Genetic aspects | Analysis | Genomics | Dementia | Parkinson's disease | Laboratories | Neuropathology | Immunocytochemistry | Genes | Parkinsons disease | Aneurysm | Genomes | Proteins | Neurodegeneration | Autopsy | Dementia disorders | Aorta | Chromosome 14 | Movement disorders | Deoxyribonucleic acid--DNA | Linkage analysis | Neurodegenerative diseases | Therapeutic applications | Gene expression | Lewy bodies | Genetic variance | Pathology | Cycloheximide | Brain research | Molecular modelling | Pluripotency | mRNA stability | Index Medicus | Neurologi | Clinical Medicine | Neurology | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 01/2015, Volume 167, Issue 6, pp. 1196 - 1203
Journal Article
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2011, Volume 58, Issue 23, pp. 2406 - 2414
Journal Article
Journal Article