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UnknownDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
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S-EPMC6817525 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
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S-EPMC10506156 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
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S-EPMC8664895 | biostudies-literature
UnknownVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857 | biostudies-literature
UnknownSelinexor in Advanced, Metastatic Dedifferentiated Liposarcoma: A Multinational, Randomized, Double-Blind, Placebo-Controlled Trial.
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S-EPMC9467680 | biostudies-literature
UnknownLow-Dose Methotrexate for the Prevention of Atherosclerotic Events.
Not available
S-EPMC6587584 | biostudies-literature
UnknownDe Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
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S-EPMC5065681 | biostudies-literature
UnknownDetection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Not available
S-EPMC8372083 | biostudies-literature
UnknownThe Immune Landscape of Cancer.
Not available
S-EPMC5982584 | biostudies-literature
UnknownClimate drives the geography of marine consumption by changing predator communities.
Not available
S-EPMC7668042 | biostudies-literature
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