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1.
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Hum Mol Genet
; 31(15): 2582-2594, 2022 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35271727
2.
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Hum Genet
; 142(9): 1385-1394, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37454340
3.
Maternal lifetime stress and psychological functioning in pregnancy is associated with preschoolers' temperament: Exploring effect modification by race and ethnicity.
Neurotoxicol Teratol
; 103: 107355, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38719081
4.
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Pediatr Neurol
; 138: 87-94, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36434914
5.
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome.
HGG Adv
; 3(4): 100138, 2022 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36119806
6.
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
Mol Autism
; 12(1): 61, 2021 09 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34588003
7.
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Mol Autism
; 12(1): 36, 2021 05 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33993884
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