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UnknownCharacteristics of undiagnosed diseases network applicants: implications for referring providers.
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S-EPMC6106923 | biostudies-literature
UnknownFurther evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
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S-EPMC6169826 | biostudies-literature
UnknownIgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
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S-EPMC6565556 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
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S-EPMC7767569 | 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
UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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S-EPMC7447524 | biostudies-literature
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