Sort   by:  
 Page size 
UnknownMutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Not available
S-EPMC3928656 | biostudies-literature
UnknownHeterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Not available
S-EPMC4101187 | biostudies-literature
UnknownAberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Not available
S-EPMC8172942 | biostudies-literature
UnknownCancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Not available
S-EPMC4402457 | biostudies-literature
UnknownThe broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Not available
S-EPMC7862067 | biostudies-literature
Sort   by:  
 Page size