Detalhe da pesquisa
1.
Diffusion tensor imaging in pediatric patients with dystonia.
Neuroimage
; 287: 120507, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244876
2.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
J Neurol Neurosurg Psychiatry
; 94(10): 806-815, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225406
3.
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
J Inherit Metab Dis
; 45(2): 169-182, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741542
4.
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
Hum Mol Genet
; 28(17): 2885-2899, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127934
5.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100084
6.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
7.
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Am J Med Genet A
; 185(1): 90-96, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048476
8.
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Am J Med Genet A
; 185(6): 1678-1690, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694278
9.
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
10.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
11.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
12.
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
13.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(5): 1206-1216, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843126
14.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am J Hum Genet
; 98(2): 310-21, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833332
15.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 108(12): 2385, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861176
16.
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
17.
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
18.
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
19.
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Neuropediatrics
; 50(6): 378-381, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319422
20.
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
J Med Genet
; 55(9): 637-640, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661969