Showing 1,061 - 1,080 results of 1,178 for search '"Genetic disorder', query time: 0.07s Refine Results
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    Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia by Harjinder Gill, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis

    Published 2011-01-01
    “…MRI of the older sibling demonstrated the characteristic “molar tooth sign” (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling. We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders. …”
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    A bioinformatic search for correspondence between differentially expressed genes of domestic versus wild animals and orthologous human genes altering reproductive potential by M. P. Ponomarenko, I. V. Chadaeva, P. M. Ponomarenko, A. G. Bogomolov, D. Yu. Oshchepkov, E. B. Sharypova, V. V. Suslov, A. V. Osadchuk, L. V. Osadchuk, Yu. G. Matushkin

    Published 2022-03-01
    “…One of the greatest achievements of genetics in the 20th century is D.K. Belyaev’s discovery of destabilizing selection during the domestication of animals and that this selection affects only gene expression regulation (not gene structure) and influences systems of neuroendocrine control of ontogenesis in a stressful environment. …”
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    Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients by Ugur Halac, Denise Herzog

    Published 2012-01-01
    “…Bardet-Biedel syndrome (BBS) is a rare autosomal recessive, genetically heterogeneous ciliopathy. Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders. …”
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    Role of the Gastrointestinal Tract Microbiome in the Pathophysiology of Diabetes Mellitus by Muhammad U. Sohail, Asmaa Althani, Haseeb Anwar, Roberto Rizzi, Hany E. Marei

    Published 2017-01-01
    “…Although the exact cause of the disease is not fully clear, perhaps, genetics, ethnic origin, obesity, age, and lifestyle are considered as few of many contributory factors for the disease pathogenesis. …”
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