Detalhe da pesquisa
1.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365382
2.
Mouse models of patent ductus arteriosus (PDA) and their relevance for human PDA.
Dev Dyn
; 251(3): 424-443, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34350653
3.
Liver Transplantation in Children with Urea Cycle Disorders: The Importance of Minimizing Waiting Time.
Liver Transpl
; 27(12): 1799-1810, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34058057
4.
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Am J Hum Genet
; 100(5): 737-750, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28457472
5.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
6.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810381
7.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480986
8.
L-histidine decarboxylase and Tourette's syndrome.
N Engl J Med
; 362(20): 1901-8, 2010 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20445167
9.
Correlation of heart rate and cardiac dysfunction in Duchenne muscular dystrophy.
Pediatr Cardiol
; 33(7): 1175-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434508
10.
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Am J Hum Genet
; 82(1): 165-73, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179895
11.
Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.
BMC Med Genet
; 12: 92, 2011 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21740577
12.
Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome.
BMC Med Genet
; 12: 127, 2011 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21957892
13.
National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health.
Ann Intern Med
; 151(12): 872-7, 2009 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19884615
14.
Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome.
BMC Med Genet
; 9: 66, 2008 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-18620593
15.
Better by the pound: the genetics of birth weight.
J Pediatr
; 160(1): 3-4, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21983202
16.
Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study.
JAMA
; 297(14): 1551-61, 2007 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17426274
17.
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Eur J Hum Genet
; 23(2): 165-72, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781755
18.
Acute effects of nicotine on serum glucose insulin growth hormone and cortisol in healthy smokers.
Metabolism
; 53(5): 578-82, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15131760
19.
The education and medical practice of Dr. James McCune Smith (1813-1865), first black American to hold a medical degree.
J Natl Med Assoc
; 95(7): 603-14, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12911258
20.
Renal teratogens.
Clin Perinatol
; 41(3): 619-32, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25155731