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1.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
J Med Genet
; 61(6): 578-585, 2024 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38290825
2.
Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
Am J Med Genet A
; 194(5): e63472, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38155610
3.
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
Europace
; 26(1)2023 Dec 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38195854
4.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32346159
5.
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.
BMC Psychiatry
; 22(1): 572, 2022 08 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36008773
6.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Hum Genet
; 140(6): 885-896, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33417013
7.
Measuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales.
Clin Neuropsychiatry
; 20(5): 453-461, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-38089734
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