Detalhe da pesquisa
1.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet;
105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38356149
2.
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.
Int J Mol Sci;
25(4)2024 Feb 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38396730
3.
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
Am J Med Genet A;
185(2): 344-354, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33155358
4.
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
J Hum Genet;
65(11): 1003-1017, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32788638
5.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
J Hum Genet;
64(8): 803-813, 2019 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31165786
6.
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
J Hum Genet;
64(10): 1051-1054, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31388109
7.
Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.
Mol Cell Probes;
45: 89-93, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30885829
8.
Genomic profiling in neuronal dyneinopathies and updated classifications.
Am J Med Genet A;
185(8): 2607-2610, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33991169
9.
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.
Am J Med Genet A;
167(6): 1300-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25846562
10.
Atopy and Elevation of IgE, IgG3, and IgG4 May Be Risk Factors for Post COVID-19 Condition in Children and Adolescents.
Children (Basel);
10(10)2023 Sep 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37892261
11.
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Genes (Basel);
14(10)2023 09 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37895210
12.
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Eur J Ophthalmol;
32(3): NP92-NP97, 2022 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34075802
13.
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Ann Clin Transl Neurol;
9(9): 1345-1358, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35880319
14.
Deficient body structural description contributes to apraxic end-position errors in imitation.
Neuropsychologia;
133: 107150, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31369744
15.
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
Acta Neuropathol Commun;
7(1): 211, 2019 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31852522
16.
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Cold Spring Harb Mol Case Stud;
5(6)2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31604777
17.
A multi-centre student survey on weighing disciplines in medical curricula - a pilot study.
GMS J Med Educ;
34(2): Doc24, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28584872