Telemark Hospital Trust
Hospital
Location:
Skien,
Norway (NO)
ISNI: 0000000406273771
ROR: https://ror.org/02fafrk51
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024)
Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al.
Journal article
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023)
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al.
Journal article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021)
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al.
Journal article