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UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
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S-EPMC8207526 | 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
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
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S-EPMC6408318 | biostudies-literature
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
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S-EPMC6925349 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
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