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UnknownMutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
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S-EPMC1852736 | biostudies-literature
UnknownOrganoids: fundamentals, present and future.
Not available
S-EPMC11397781 | biostudies-literature
UnknownPRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
Not available
S-EPMC8385026 | biostudies-literature
UnknownGermline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
Not available
S-EPMC3184212 | biostudies-literature
UnknownHigher in-hospital proportion of breast milk intake improves brain functional connectivity and neurological assessment in preterm infants.
Not available
S-EPMC12040976 | biostudies-literature
UnknownPrognostic Value of Various Diagnostic Methods for Long-Term Outcome of Newborns After Hypoxic-Ischemic Encephalopathy Treated With Hypothermia.
Not available
S-EPMC9021608 | biostudies-literature
UnknownEquivalence of the FCSRT and RAVLT to detect medial Temporal lobe atrophy and tauopathy.
Not available
S-EPMC12559241 | biostudies-literature
UnknownCase report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder.
Not available
S-EPMC11416919 | biostudies-literature
UnknownMethyl-qPCR: a new method to investigate Epstein-Barr virus infection in post-transplant lymphoproliferative diseases.
Not available
S-EPMC8895795 | biostudies-literature
UnknownEvaluating the relationships of hypoglycaemia and HbA1c with screening-detected diabetes distress in type 1 diabetes.
Not available
S-EPMC6353214 | biostudies-literature
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