Detalhe da pesquisa
1.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100095
2.
Heart Transplantation in Children with Mitochondrial Disease.
J Pediatr
; 217: 46-51.e4, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711761
3.
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Am J Med Genet A
; 176(3): 692-698, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388319
4.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749475
5.
A systematic review of the published literature on team-based learning in health professions education.
Med Teach
; 39(12): 1227-1237, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28664760
6.
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Am J Med Genet A
; 167A(9): 2052-64, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097203
7.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543972
8.
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
J Inherit Metab Dis
; 36(5): 757-66, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23197105
9.
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Genet Med
; 14(10): 868-76, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722545
10.
11.
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
Genet Med
; 13(5): 447-52, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21293276
12.
Detection of clinically relevant exonic copy-number changes by array CGH.
Hum Mutat
; 31(12): 1326-42, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848651
13.
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
J Pediatr
; 156(5): 832-7, 837.e1, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20097359
14.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Mol Genet Metab
; 96(3): 97-105, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19138872
15.
Comprehensive assessment of serious adverse events following immunization by health care providers.
J Pediatr
; 162(6): 1276-81, 1281.e1, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23452584
16.
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
Eur J Hum Genet
; 13(3): 330-5, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15562281
17.
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
Mitochondrion
; 14(1): 26-33, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891656
18.
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
JIMD Rep
; 8: 109-19, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430527
19.
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Eur J Hum Genet
; 19(3): 280-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21150890
20.
Impact of congenital talipes equinovarus etiology on treatment outcomes.
Dev Med Child Neurol
; 50(7): 498-502, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18611198