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UnknownA novel c.1759T>G variant in follicle-stimulating hormone-receptor gene is concordant with male determination in the flathead grey mullet (Mugil cephalus).
Not available
S-EPMC8022982 | biostudies-literature
UnknownInflammatory monocytes orchestrate innate antifungal immunity in the lung.
Not available
S-EPMC3930594 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Not available
S-EPMC7767569 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Not available
S-EPMC8664895 | biostudies-literature
UnknownLoss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Not available
S-EPMC11451386 | biostudies-literature
UnknownGenetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
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S-EPMC11305122 | biostudies-literature
UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195 | biostudies-literature
UnknownGain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Not available
S-EPMC9484401 | biostudies-literature
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