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Journal Article
Epidemiology and genetics of hypertrophic cardiomyopathy, 12/2006
Background: Hypertrophic cardiomyopathy (HCM) is a heart muscle disorder and is known to be inherited as an autosomal dominant trait. Mutations in several... 
Hypertrophic cardiomyopathy, inheritance, penetrance, heritability, relative estimates
Journal
Clinical Genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 118 - 126
Journal Article
European Journal of Heart Failure, ISSN 1388-9842, 06/2019, Volume 21, Issue 6, pp. 801 - 802
Journal Article
Medicine (United States), ISSN 0025-7974, 03/2013, Volume 92, Issue 2, pp. 109 - 122
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 2, pp. 335 - 353
Journal Article
Voprosy Onkologii, ISSN 0507-3758, 2018, Volume 64, Issue 2, pp. 234 - 241
Journal Article
British Journal of Haematology, ISSN 0007-1048, 09/2019, Volume 186, Issue 5, pp. e159 - e162
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2013, Volume 15, Issue 7, pp. 565 - 574
In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication... 
genome | genomic medicine | whole exome | whole genome | incidental findings | secondary findings | personalized medicine | sequencing | FUTURE | MEDICINE | RETURN | GENETICS | GENETICS & HEREDITY | Exome | Genetics, Medical | Humans | Incidental Findings | Penetrance | Patient Preference | Genome, Human | whole-genome | whole-exome
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
Clinically relevant variants exhibit a wide range of penetrance. Medical practice has traditionally focused on highly penetrant variants with large effect... 
risk allele | odds ratio | low penetrance | variant interpretation | classification framework
Journal Article
Blood, ISSN 0006-4971, 03/2006, Volume 107, Issue 5, pp. 1747 - 1750
The diagnosis of anemia is an important aspect of the practice of hematology. The first step is to decide whether the patient is, in fact, anemic. Unless... 
PENETRANCE | IRON | WHITES | HEMATOLOGY | MUTATION | HEMOCHROMATOSIS | Anemia - blood | Humans | Anemia - diagnosis | Female | Male | Hemoglobins - analysis | Blood Cell Count
Journal Article
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY, ISSN 1341-9625, 02/2018, Volume 23, Issue 1, pp. 35 - 35
Journal Article
JOURNAL OF CLINICAL ONCOLOGY, ISSN 0732-183X, 10/2005, Volume 23, Issue 30, pp. 7491 - 7496
Purpose The purpose of this study was to estimate the extent of protection offered against breast cancer by prophylactic oophorectomy in carriers of BRCA1 or... 
PENETRANCE | SERIES | ONCOLOGY | DISEASE | ESTROGEN | RANDOMIZED CONTROLLED-TRIAL | OVARIAN-CANCER | PREVALENCE | POSTMENOPAUSAL WOMEN | MENOPAUSE | PROPHYLACTIC OOPHORECTOMY
Journal Article
Parkinsonism & related disorders, ISSN 1353-8020, 05/2019, Volume 65, pp. 274 - 276
Journal Article
Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2018, Volume 235, Issue 11, pp. 1235 - 1241
Journal Article