Search Results - "Baig, S.M."
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Cenani–Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation
Published in European journal of medical genetics (01-07-2013)“…Abstract Cenani–Lenz syndrome (CLS) is a rare autosomal recessive developmental disorder of the limbs. The disorder is characterized by complete syndactyly…”
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Prediction of viral loads for diagnosis of Hepatitis C infection in human plasma samples using Raman spectroscopy coupled with partial least squares regression analysis
Published in Journal of Raman spectroscopy (01-05-2017)“…Raman spectroscopy has been used to identify the biochemical changes associated with the presence of the Hepatitis C virus (HCV) in infected human blood plasma…”
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Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome
Published in Clinical genetics (01-10-2014)“…Laurin‐Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet,…”
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Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
Published in Clinical genetics (01-01-2018)“…The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal…”
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Mini Review Identifying human disease genes: advances in molecular genetics and computational approaches
Published in Genetics and molecular research (2014)Get full text
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Prevention of beta-thalassemia in a large Pakistani family through cascade testing
Published in Community genetics (01-01-2008)“…We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of…”
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Molecular and population genetic analyses of β‐Thalassemia in Turkey
Published in American journal of hematology (01-03-1998)“…In this report we describe the molecular analysis of 795 chromosomes derived from unrelated Turkish β‐thalassemia and sickle cell anemia carriers identified in…”
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Changes in circulating levels of immunoreactive follicle stimulating hormone, luteinizing hormone, and testosterone during sexual development in the rhesus monkey, Macaca mulatta
Published in Journal of medical primatology (01-01-1986)“…Basal serum levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (T) and the responsiveness of these hormones to a…”
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