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UnknownAdditional value of advanced ultrasonography in pregnancies with two inconclusive cell-free DNA draws.
Not available
S-EPMC9828350 | biostudies-literature
UnknownA t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.
Not available
S-EPMC4849851 | biostudies-literature
UnknownDetection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study.
Not available
S-EPMC11961104 | biostudies-literature
UnknownRare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.
Not available
S-EPMC5240543 | biostudies-literature
Unknown3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
Not available
S-EPMC1226188 | biostudies-literature
UnknownOsteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate.
Not available
S-EPMC9424276 | biostudies-literature
UnknownDeficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Not available
S-EPMC3617390 | biostudies-literature
UnknownExonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Not available
S-EPMC3567268 | biostudies-literature
UnknownAltered PLP1 splicing causes hypomyelination of early myelinating structures.
Not available
S-EPMC4479525 | biostudies-literature
UnknownExome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Not available
S-EPMC9729101 | biostudies-literature
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