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UnknownEvaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
Not available
S-EPMC10172375 | biostudies-literature
UnknownTargeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Not available
S-EPMC4817771 | biostudies-literature
UnknownThe Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Not available
S-EPMC10098370 | biostudies-literature
UnknownA novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Not available
S-EPMC3261728 | biostudies-literature
UnknownMutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Not available
S-EPMC4970687 | biostudies-literature
UnknownNew hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Not available
S-EPMC3837119 | biostudies-literature
UnknownTrends in the epidemiology of intravascular device-associated bacteremia among French hematology patients: insights from the SPIADI prospective multicenter study, 2020-2024.
Not available
S-EPMC11971209 | biostudies-literature
UnknownClinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Not available
S-EPMC8354853 | biostudies-literature
UnknownA metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Not available
S-EPMC10866660 | biostudies-literature
UnknownClinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Not available
S-EPMC10757562 | biostudies-literature
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