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1.
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
J Inherit Metab Dis
; 46(6): 1029-1042, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37718653
2.
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
J Med Genet
; 57(2): 132-137, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31586945
3.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37679823
4.
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
J Mol Diagn
; 23(1): 71-90, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33223419
5.
Broadening the spectrum of neonatal hemochromatosis.
J Matern Fetal Neonatal Med
; 33(6): 1024-1026, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30058407
6.
Right Structural and Functional Reorganization in Four-Year-Old Children with Perinatal Arterial Ischemic Stroke Predict Language Production.
eNeuro
; 6(4)2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31383726
7.
Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity.
Cortex
; 77: 95-118, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26922507
8.
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Orphanet J Rare Dis
; 10: 164, 2015 Dec 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-26714856
9.
Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Orphanet J Rare Dis
; 11(1): 147, 2016 11 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27809869
10.
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency.
Eur J Hum Genet
; 18(12): 1353-5, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20664630
11.
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
Clin Biochem
; 42(1-2): 27-33, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18996107
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