Subject Areas on Research
- A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
- Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?
- EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
- Epilepsy in KCNH1-related syndromes.
- Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
- Poland's syndrome associated with childhood non-Hodgkin's lymphoma.
- The kidney and hypertension: lessons from mouse models.
- Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.
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