Detalhe da pesquisa
1.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28391250
2.
Infectious and immunologic phenotype of MECP2 duplication syndrome.
J Clin Immunol
; 35(2): 168-81, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25721700
3.
Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.
Genes (Basel)
; 14(2)2023 01 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36833254
4.
Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
Psychiatry Res
; 197(3): 356-7, 2012 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-22365273
5.
Re-emerging concepts of immune dysregulation in autism spectrum disorders.
Front Psychiatry
; 13: 1006612, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36339838
6.
Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.
Exp Ther Med
; 23(1): 101, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34976143
7.
Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.
Autism
; 26(8): 2136-2150, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35261293
8.
The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.
Genes (Basel)
; 12(7)2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34356041
9.
Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.
Genes (Basel)
; 12(6)2021 05 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34073526
10.
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.
Clin Case Rep
; 9(1): 314-321, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33505690
11.
Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies.
Genes (Basel)
; 12(6)2021 05 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34070898
12.
Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases.
Open Life Sci
; 15: 21-29, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33987468
13.
Predictive factors in early onset schizophrenia.
Exp Ther Med
; 20(6): 210, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33149774
14.
Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.
J Autism Dev Disord
; 50(9): 3380-3394, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31606886
15.
Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives.
J Autism Dev Disord
; 50(9): 3395-3396, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31782082
16.
Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.
Rom J Morphol Embryol
; 60(2): 713-716, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31658349
17.
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
PLoS One
; 12(5): e0176363, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28463998
18.
Novel clinical finding in MECP2 duplication syndrome.
Eur Child Adolesc Psychiatry
; 20(7): 373-5, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21590509
19.
3p interstitial deletion: novel case report and review.
J Child Neurol
; 27(8): 1062-6, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22290856
20.
Genetic technologies in cancer investigation - applications in aggresive lymphoid malignancies.
Maedica (Bucur)
; 7(1): 75-9, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23118825