Detalhe da pesquisa
1.
Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 188(7): 2237-2241, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426477
2.
Correcting mitochondrial fusion by manipulating mitofusin conformations.
Nature
; 540(7631): 74-79, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27775718
3.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
4.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
5.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
6.
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
; 214: 165-167.e1, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477379
7.
Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: A Case Series and Genetic Links.
Cureus
; 16(2): e54105, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38487126
8.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Genome Med
; 13(1): 90, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020708
9.
The Effect of Chemical Cleaning on Mechanical Properties of Three-Dimensional Printed Polylactic Acid.
J Med Device
; 14(1): 011109, 2020 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32328212
10.
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.
Eur J Med Genet
; 63(3): 103736, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422286
11.
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Int J Neonatal Screen
; 6(1): 4, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073003
12.
Newborn screening by whole-genome sequencing: ready for prime time?
Clin Chem
; 60(9): 1243-4, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25170170
13.
Real-time oncological guidance using diffuse reflectance spectroscopy in electrosurgery: the effect of coagulation on tissue discrimination.
J Biomed Opt
; 23(11): 1-10, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447060
14.
Abrogating Mitochondrial Dynamics in Mouse Hearts Accelerates Mitochondrial Senescence.
Cell Metab
; 26(6): 872-883.e5, 2017 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29107503
15.
Digynic triploidy: utility and challenges of noninvasive prenatal testing.
Clin Case Rep
; 3(6): 406-10, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185638