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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
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- Article
MEASURING ADAPTIVE BEHAVIOR IN PATIENTS WITH MENDELIAN NEURODEVELOPMENTAL DISORDERS. COMPARISON OF ABAS-3 AND DUTCH VINELAND SCALES.
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- Clinical Neuropsychiatry, 2023, v. 20, n. 5, p. 453, doi. 10.36131/cnfioritieditore20230507
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- Article
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
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- EP: Europace, 2024, v. 26, n. 1, p. 1, doi. 10.1093/europace/euae003
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- Article
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.
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- BMC Psychiatry, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12888-022-04213-6
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- Article
Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63472
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- Article