Detalhe da pesquisa
1.
Impact of alcohol exposure on neural development and network formation in human cortical organoids.
Mol Psychiatry
; 28(4): 1571-1584, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385168
2.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651673
3.
Fetal alcohol spectrum disorders and access to regional center services in San Diego County.
Alcohol Clin Exp Res
; 46(10): 1857-1864, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36059261
4.
Use of Telemedicine for the Physical Examination of Children With Fetal Alcohol Spectrum Disorders.
Alcohol Clin Exp Res
; 45(2): 409-417, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316074
5.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
6.
Fetal Alcohol Spectrum Disorders: Health Needs Assessment in Brazil.
Alcohol Clin Exp Res
; 44(3): 660-668, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984499
7.
Neosaxitoxin Inhibits the Expression of Inflammation Markers of the M1 Phenotype in Macrophages.
Mar Drugs
; 18(6)2020 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471037
8.
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
Pediatr Res
; 83(1-1): 119-127, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28820871
9.
Hemocyanins Stimulate Innate Immunity by Inducing Different Temporal Patterns of Proinflammatory Cytokine Expression in Macrophages.
J Immunol
; 196(11): 4650-62, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27183578
10.
The oxygen-binding properties of hemocyanin from the mollusk Concholepas concholepas.
Biochim Biophys Acta Proteins Proteom
; 1865(12): 1746-1757, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28844742
11.
The phenotypic spectrum of congenital Zika syndrome.
Am J Med Genet A
; 173(4): 841-857, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328129
12.
Which unscheduled return visits indicate a quality-of-care issue?
Emerg Med J
; 34(3): 145-150, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671021
13.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet
; 23(11): 2888-900, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403048
14.
Metabolic abnormalities in Williams-Beuren syndrome.
J Med Genet
; 52(4): 248-55, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25663682
15.
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Hum Mutat
; 36(5): 535-47, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703627
16.
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Am J Hum Genet
; 91(5): 883-9, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122587
17.
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Cytogenet Genome Res
; 146(3): 181-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26382598
18.
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Am J Med Genet A
; 167A(8): 1796-806, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898808
19.
Acute Megakaryoblastic Leukemia Leading to the Diagnosis of Germline Trisomy 21 Mosaicism.
J Pediatr Hematol Oncol
; 42(4): 299-301, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32068651
20.
Is religiosity related to attitudes toward clinical trials participation?
J Cancer Educ
; 30(2): 220-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24953236