Detalhe da pesquisa
1.
BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.
Am J Med Genet A
; 188(6): 1875-1880, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243762
2.
Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
J Craniofac Surg
; 33(1): 230-232, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34261967
3.
Structure, Photoluminescence Emissions, and Photocatalytic Activity of Ag2SeO3: A Joint Experimental and Theoretical Investigation.
Inorg Chem
; 60(8): 5937-5954, 2021 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33769807
4.
Hardened skin can be an early indicator of premature ageing: A case report of the progeria syndrome.
Acta Paediatr
; 113(5): 1112-1114, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318733
5.
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Am J Hum Genet
; 94(1): 120-8, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360810
6.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Am J Med Genet A
; 173(4): 938-945, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328130
7.
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Cleft Palate Craniofac J
; 52(4): 411-6, 2015 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805874
8.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Eur J Pediatr
; 172(7): 927-45, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440478
9.
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Orphanet J Rare Dis
; 18(1): 160, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349768
10.
Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.
Epileptic Disord
; 25(5): 724-730, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37518897
11.
Gastroprotective effect of Artemisia absinthium L.: A medicinal plant used in the treatment of digestive disorders.
J Ethnopharmacol
; 312: 116488, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059247
12.
Chemical contamination in coastal areas alters shape, resistance and composition of carnivorous gastropod shells.
Chemosphere
; 307(Pt 2): 135926, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934096
13.
The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature.
Am J Med Genet A
; 155A(5): 1173-7, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21485002
14.
Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?
Am J Med Genet A
; 155A(9): 2308-10, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21815264
15.
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.
Am J Med Genet A
; 155A(5): 1152-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21485001
16.
Unconventional Disorder by Femtosecond Laser Irradiation in Fe2O3.
ACS Omega
; 6(42): 28049-28062, 2021 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34723005
17.
Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward.
Cancers (Basel)
; 13(23)2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34885220
18.
Effects of two intensities of treadmill exercise on neuromuscular recovery after median nerve crush injury in Wistar rats.
J Exerc Rehabil
; 15(3): 392-400, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316931
19.
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
Eur J Hum Genet
; 16(2): 145-52, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18000524
20.
Gravidade e tempo de hospitalização de pacientes não críticos com lesão renal aguda / Gravedad y tiempo de hospitalización de pacientes no críticos con lesión renal aguda / Severity and lenght of hospitalization of non-critical patients with acute kidney injury
Rev. enferm. Cent.-Oeste Min
; 13: 4838, jun. 2023.
Artigo
em Português
| LILACS, BDENF - enfermagem (Brasil) | ID: biblio-1436341