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UnknownDe novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Not available
S-EPMC11533975 | biostudies-literature
UnknownWhole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Not available
S-EPMC6196654 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownDe novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Not available
S-EPMC7118694 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
UnknownTwo phase 3 trials of bapineuzumab in mild-to-moderate Alzheimer's disease.
Not available
S-EPMC4159618 | biostudies-literature
UnknownA concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Not available
S-EPMC10506157 | biostudies-literature
UnknownUnraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
Not available
S-EPMC10542653 | biostudies-literature
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
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