Showing 641 - 660 results of 39,393 for search '(( a de decrease ) OR ( 50 ((((ng decrease) OR (a decrease))) OR (nn decrease)) ))', query time: 0.88s Refine Results
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    Image_1_Characterization of a de novo GABBR2 variant linked to autism spectrum disorder.JPEG by Noa Bielopolski (17437437)

    Published 2023
    “…Pathogenic variants in the GABBR1 and GABBR2 genes, which encode the GB1 and GB2 subunits of GABA<sub>B</sub>Rs, are implicated in several neurological and developmental disorders, including epilepsy and autism. Here we present a 7-year-old boy with Level 3 Autism Spectrum Disorder who carries a de novo heterozygous missense GABBR2 p.Arg212Gln variant. …”
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    Image_2_Characterization of a de novo GABBR2 variant linked to autism spectrum disorder.JPEG by Noa Bielopolski (17437437)

    Published 2023
    “…Pathogenic variants in the GABBR1 and GABBR2 genes, which encode the GB1 and GB2 subunits of GABA<sub>B</sub>Rs, are implicated in several neurological and developmental disorders, including epilepsy and autism. Here we present a 7-year-old boy with Level 3 Autism Spectrum Disorder who carries a de novo heterozygous missense GABBR2 p.Arg212Gln variant. …”
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    Table_1_Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort.DOCX by Jinfu Lin (5632655)

    Published 2021
    “…With advances in prenatal diagnosis decreasing the number of affected offspring from carrier mothers, the frequency of de novo variants could increase. …”
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    Image_1_Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort.TIF by Jinfu Lin (5632655)

    Published 2021
    “…With advances in prenatal diagnosis decreasing the number of affected offspring from carrier mothers, the frequency of de novo variants could increase. …”
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    Image_2_Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort.TIF by Jinfu Lin (5632655)

    Published 2021
    “…With advances in prenatal diagnosis decreasing the number of affected offspring from carrier mothers, the frequency of de novo variants could increase. …”
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