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The Status of Vernier Acuity Following Late Sight Onset.
Not available
S-EPMC11810050
|
biostudies-literature
Cite
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195
|
biostudies-literature
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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Not available
S-EPMC8103593
|
biostudies-literature
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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Not available
S-EPMC10506157
|
biostudies-literature
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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Not available
S-EPMC9586540
|
biostudies-literature
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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Not available
S-EPMC7867619
|
biostudies-literature
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Not available
S-EPMC8488020
|
biostudies-literature
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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855
|
biostudies-literature
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Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
Not available
S-EPMC10542653
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biostudies-literature
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Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697
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biostudies-literature
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