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1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet;
31(19): 3325-3340, 2022 09 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35604360
2.
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
Am J Med Genet A;
194(5): e63524, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38169137
3.
Examining the Impacts of the COVID-19 Pandemic on Service Providers Working with Children and Youth with Neuro-developmental Disabilities and their Families: Results of a Focus Group Study.
J Intellect Disabil;
27(4): 871-884, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35652791
4.
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
Ann Neurol;
88(2): 264-273, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32342562
5.
Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.
Epilepsia;
62(9): 2228-2239, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34287833
6.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat;
40(7): 908-925, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30817854
7.
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Epilepsia;
60(9): 1881-1894, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31468518
8.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS Genet;
12(4): e1005848, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27120463
9.
Laparoscopic Surgery for Severe Rectovaginal Endometriosis Compromising the Bowel: A Prospective Cohort Study.
J Minim Invasive Gynecol;
23(4): 526-34, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26724718
10.
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium.
Epilepsia;
56(4): 617-25, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25779538
11.
Clobazam is equally safe and efficacious for seizures associated with Lennox-Gastaut syndrome across different age groups: Post hoc analyses of short- and long-term clinical trial results.
Epilepsy Behav;
46: 221-6, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25940107
12.
Squamous-cell carcinoma in situ.
Dermatol Online J;
21(12)2015 Dec 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-26990329
13.
Stable dosages of clobazam for Lennox-Gastaut syndrome are associated with sustained drop-seizure and total-seizure improvements over 3 years.
Epilepsia;
55(4): 558-67, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24580023
14.
Making choices about medical interventions: the experience of disabled young people with degenerative conditions.
Health Expect;
17(2): 254-66, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22296527
15.
Autism voices: Perspectives of the needs, challenges, and hopes for the future of autistic youth.
Autism;
27(4): 1142-1156, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36329663
16.
Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis.
Front Neurol;
14: 1304610, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38130835
17.
An Adolescent with Increased Plasma Methylmalonic Acid and Total Homocysteine.
Clin Chem;
63(6): 1069-1072, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28550124
18.
Long-term safety and efficacy of clobazam for Lennox-Gastaut syndrome: interim results of an open-label extension study.
Epilepsy Behav;
25(4): 687-94, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23141144
19.
A Qualitative Examination of the Impact of the COVID-19 Pandemic on Individuals with Neuro-developmental Disabilities and their Families.
J Child Fam Stud;
31(8): 2202-2214, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35855733
20.
Maximising the engagement of older people with mental health needs and dementia with social care.
Health Soc Care Community;
30(6): e6467-e6474, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36334261