Detalhe da pesquisa
1.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy Behav
; 124: 108315, 2021 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34619538
2.
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
Kidney Int
; 91(5): 1243-1255, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28233610
3.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27831545
4.
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Am J Med Genet A
; 161A(2): 273-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23322667
5.
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Eur J Med Genet
; 66(8): 104808, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37391029
6.
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Arch Endocrinol Metab
; 67(1): 143-149, 2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36468928
7.
Familial Poland anomaly revisited.
Am J Med Genet A
; 158A(1): 140-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22110015
8.
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Diagnostics (Basel)
; 11(6)2021 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199854
9.
Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study.
Int J Health Geogr
; 8: 8, 2009 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208225
10.
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
J Neurol
; 266(2): 378-385, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30515630
11.
Adverse pregnancy outcomes in a population exposed to the emissions of a municipal waste incinerator.
Sci Total Environ
; 407(1): 116-21, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18824255
12.
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Arch. endocrinol. metab. (Online)
; 67(1): 143-149, Jan.-Feb. 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1420096
13.
FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.
Eur J Med Genet
; 48(4): 388-96, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16378923
14.
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
Gene
; 559(2): 144-8, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597765
15.
Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.
J Mol Neurosci
; 54(4): 723-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24816653
16.
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.
PLoS One
; 7(6): e39180, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22720067
17.
Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries.
Am J Med Genet A
; 143A(6): 528-37, 2007 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17286264