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Biomedical Reports, ISSN 2049-9434, 10/2018, Volume 9, Issue 4, pp. 350 - 356
Determining molecular markers for osteoporosis may be valuable for improving the quality of life of affected elderly patients by aiding in early detection and... 
Postmenopause | Osteoporosis | Genotyping | Tumour necrosis factor superfamily member 11 | Vitamin D receptor
Journal Article
Journal Article
Asian Biomedicine, ISSN 1905-7415, 02/2011, Volume 5, Issue 1, pp. 23 - 36
Journal Article
Asian Pacific journal of cancer prevention : APJCP, ISSN 1513-7368, 11/2017, Volume 18, Issue 11, pp. 3135 - 3142
Multiple myeloma (MM) is a hematological malignancy characterized by abnormal accumulation of clonal plasma cells in the bone marrow. Recently, multiplex... 
Multiple myeloma-karyotyping-interphase Fluorescence in situ hybridization
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 09/2013, Volume 58, Issue 9, pp. 594 - 599
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the glucocerebrosidase (GBA) gene, leading to a deficiency of lysosomal... 
Termination codon mutation | Gaucher disease | Mutation spectrum | GBA | GLUCOCEREBROSIDASE GENE | mutation spectrum | ALLELES | GENETICS & HEREDITY | TYPE-1 | termination codon mutation | Haplotypes | Asian Continental Ancestry Group | Glucosylceramidase - genetics | Gaucher Disease - genetics | Humans | Female | Male | Mutation | Gaucher Disease - enzymology | Age
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 2011, Volume 22, Issue 12, pp. 2266 - 2277
Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). Unfortunately, the lack of specific... 
ARPKD | PROTEIN | GENE | POLYCYSTIC KIDNEY-DISEASE | MOUSE MODEL | MUTATION | DYSGENESIS | UROLOGY & NEPHROLOGY | BILIARY | PRIMARY CILIA | POLYDUCTIN | Animals | Receptors, Cell Surface - metabolism | Female | Male | Mice | Receptors, Cell Surface - physiology | Epitopes | Basic Research
Journal Article
Journal of the Endocrine Society, ISSN 2472-1972, 01/2019, Volume 3, Issue 1, pp. 171 - 180
( ) mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals... 
Journal Article
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