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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
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Reconstructing the genetic structure of the Kazakh from clan distribution data
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Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries
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Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
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Interleukin-2 receptor β chain as a possible target for low doses of mafosfamide
Published 1995-01-01Get full text
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Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)
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A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature
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Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
Published 2013-10-01“…In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX). …”
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Gain in 1q is a Common Abnormality in Phyllodes Tumours of the Breast
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Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions
Published 2019-07-01Get full text
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Association of vascular endothelial growth factor B (VEGFВ) gene polymorphisms with intracranial aneurysms
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