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UnknownEnhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.
Not available
S-EPMC11091329 | biostudies-literature
UnknownMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Not available
S-EPMC4415612 | biostudies-literature
UnknownCongenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
Not available
S-EPMC2576053 | biostudies-literature
UnknowntRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Not available
S-EPMC3814312 | biostudies-literature
UnknownThe association of glycogen synthase kinase-3beta (GSK-3β) gene polymorphism with kidney function in long-term lithium-treated bipolar patients.
Not available
S-EPMC4230305 | biostudies-literature
UnknownPhenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
Not available
S-EPMC6081227 | biostudies-literature
UnknownA novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex.
Not available
S-EPMC11315929 | biostudies-literature
UnknownUMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort.
Not available
S-EPMC4236674 | biostudies-literature
UnknownThe mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.
Not available
S-EPMC7822790 | biostudies-literature
UnknownTMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
Not available
S-EPMC3398502 | biostudies-literature
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