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UnknownEarly noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
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S-EPMC2493031 | biostudies-literature
UnknownComparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Not available
S-EPMC7994713 | biostudies-literature
UnknownAttention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
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S-EPMC8471078 | biostudies-literature
UnknownCIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
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S-EPMC9305285 | biostudies-literature
UnknownGenetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
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S-EPMC7810997 | biostudies-literature
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