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1.
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.
Genet Med
; 26(1): 101009, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37864479
2.
Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome.
J Speech Lang Hear Res
; 67(3): 939-959, 2024 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38407074
3.
Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.
Am J Intellect Dev Disabil
; 129(3): 175-190, 2024 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38657964
4.
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
Ther Adv Rare Dis
; 5: 26330040241254122, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38808315
5.
Developmental milestones and daily living skills in individuals with Angelman syndrome.
J Neurodev Disord
; 16(1): 32, 2024 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38879552
6.
Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.
J Autism Dev Disord
; 2023 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37581718
7.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Cells
; 12(18)2023 09 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37759552
8.
Mental Health Challenges, Parenting Stress, and Features of the Couple Relationship in Parents of Children With Fragile X Syndrome.
Front Psychiatry
; 13: 857633, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35432025
9.
Family and Caregiver Characteristics Contribute to Caregiver Change in Use of Strategies and Growth in Child Spoken Language in a Parent-Implemented Language Intervention in Fragile X Syndrome.
Perspect ASHA Spec Interest Groups
; 7(6): 1630-1644, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36778100
10.
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome.
J Neurodev Disord
; 12(1): 12, 2020 04 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-32316911
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