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UnknownRecommendations for the integration of genomics into clinical practice.
Not available
S-EPMC5557020 | biostudies-literature
UnknownModel organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Not available
S-EPMC8103593 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Not available
S-EPMC8664895 | biostudies-literature
UnknownA novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Not available
S-EPMC9426662 | 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
UnknownEndocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Not available
S-EPMC9586540 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
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