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Compound-heterozygous Marfan syndrome [PDF]
European Journal of Medical Genetics, 2009 Contains fulltext : 81680.pdf (Publisher’s version ) (Closed access)We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS).
Yvonne Hilhorst-Hofstee +2 more
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Heterozygous familial hypercholesterolemia: prevalence and control rates
Expert Review of Endocrinology and Metabolism, 2021Konstantinos Tziomalos +1 more
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Association of rare heterozygous variants with the risk of Parkinson's disease
Neurobiology of Aging, 2021Qian Xu, Qiying Sun, Ji-Feng Guo
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Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation
European Journal of Paediatric Neurology, 2011Choong Yi Fong +2 more
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Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia
Journal of the American Heart Association, 2019Nandhini Sehar +2 more
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Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study
Journal of Genetic Counseling, 2016Jan C Frich +2 more
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HETEROZYGOUS ALPHA1-ANTITRYPSIN DEFICIENCY AND CIRRHOSIS IN ADULTS, A FORTUITOUS ASSOCIATION
Lancet, The, 1975B Rueff, C Ropartz, J -P Benhamou
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PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum†‡
Human Mutation, 2008Paolo Stanzione +2 more
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