Sort   by:  
 Page size 
UnknownMutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Not available
S-EPMC4343211 | biostudies-literature
UnknownPathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Not available
S-EPMC11947181 | biostudies-literature
UnknownHeterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Not available
S-EPMC8206162 | biostudies-literature
UnknownClinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Not available
S-EPMC6973139 | biostudies-literature
UnknownLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Not available
S-EPMC7530681 | biostudies-literature
UnknownParent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Not available
S-EPMC4185210 | biostudies-literature
Sort   by:  
 Page size