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UnknownGenome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
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S-EPMC9000935 | biostudies-literature
UnknownVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
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S-EPMC8354857 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
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S-EPMC8222855 | biostudies-literature
UnknownA description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
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S-EPMC8208045 | biostudies-literature
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 CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownDrosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution.
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S-EPMC4426361 | biostudies-literature
UnknownReactogenicity and immunogenicity after a late second dose or a third dose of ChAdOx1 nCoV-19 in the UK: a substudy of two randomised controlled trials (COV001 and COV002).
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S-EPMC8409975 | biostudies-literature
UnknownBioTIME: A database of biodiversity time series for the Anthropocene.
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S-EPMC6099392 | biostudies-literature
UnknownMethotrexate, Doxorubicin, and Cisplatin (MAP) Plus Maintenance Pegylated Interferon Alfa-2b Versus MAP Alone in Patients With Resectable High-Grade Osteosarcoma and Good Histologic Response to Preoperative MAP: First Results of the EURAMOS-1 Good Response Randomized Controlled Trial.
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S-EPMC4486345 | biostudies-literature
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