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Familial breast cancer: Genetics and counseling, 12/2005
Hereditary breast cancer (HBC) accounts for 5-10% of all breast cancer cases. A family history of breast cancer has long been ecognized as a significant risk... 
Familial breast cancer, BRCA1, BRCA2, genetic counseling
Journal
Molecular diagnosis and genetic counseling for fragile X mental retardation, 01/2004
The fragile X syndrome is the most frequent cause of inherited mental retardation. It is caused by a dynamic mutation: the progressive expansion of polymorphic... 
Neurology | ni04011 Fragile X mental retardation, Genetic Counseling, Mutation, Premutation
Journal
Connexin 26 and autosomal recessive non-syndromic hearing loss, 07/2003
Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60%... 
hg03010 Non-syndromic, Hearing loss, Autosomal recessive, Connexin 26, DFNB1, mutation detection, Gap junction proteins, GJB2 | Genetics
Journal
Clinical and molecular diagnosis of spinal muscular atrophy, 06/2002
The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and... 
Neurology
Journal
Indian Heart Journal, ISSN 0019-4832, 2015, Volume 67, Issue S1, pp. S87 - S87
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2018, Volume 94, Issue 1, pp. 159 - 164
The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis... 
spondylocarpotarsal synostosis syndrome | FLNB | vertebral segmentation defects | carpal coalition | GENETIC-VARIATION | VERTEBRAL SEGMENTATION | GENETICS & HEREDITY | FILAMIN | MUTATIONS | SPECTRUM | Dysplasia | Dysostosis | Vertebrae | Spondylocarpotarsal synostosis | Thorax
Journal Article
Journal Article
Andrologia, ISSN 0303-4569, 02/2011, Volume 43, Issue 1, pp. 75 - 77
Journal Article
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
Indian Pediatrics, ISSN 0019-6061, 11/2011, Volume 48, Issue 11, pp. 901 - 906
We report two cases which illustrate that enzyme assay results alone, may at times be equivocal and inconclusive in the prenatal diagnosis of storage disorders... 
Pompe disease | Pediatrics | Medicine & Public Health | Maternal and Child Health | Mutation analysis | Storage disorder | Pediatric Surgery | PEDIATRICS | Enzymes | Pregnant women | Analysis | Medical genetics
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 5, pp. E1319 - E1331
Journal Article