Detalhe da pesquisa
1.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Am J Med Genet A
; 188(3): 867-877, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894057
2.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
3.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033404
4.
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Genet Med
; 21(9): 2081-2091, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837697
5.
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Am J Med Genet A
; 170(3): 754-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26728615
6.
Measuring gill paracellular permeability with polyethylene glycol-4000 in freely swimming trout: proof of principle.
J Exp Biol
; 217(Pt 9): 1425-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436388
7.
Allatostatin A-like immunoreactivity in the nervous system and gut of the larval midge Chironomus riparius: modulation of hindgut motility, rectal K+ transport and implications for exposure to salinity.
J Exp Biol
; 217(Pt 21): 3815-22, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25214489
8.
K⺠absorption by locust gut and inhibition of ileal K⺠and water transport by FGLamide allatostatins.
J Exp Biol
; 217(Pt 18): 3377-85, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25013112
9.
The neural and peptidergic control of gut contraction in Locusta migratoria: the effect of an FGLa/AST.
J Exp Biol
; 215(Pt 19): 3394-402, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693021
10.
Frequency, topic, and preferences: Tracking student engagement with several modalities of student-instructor contact in a first-year course.
FEBS Open Bio
; 12(1): 12-23, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656071
11.
Optimising intervals for abdominal aortic aneurysm surveillance: A pilot study analysing patient opinion.
Ultrasound
; 29(1): 27-35, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33552225
12.
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Hum Mutat
; 31(6): 722-33, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513142
13.
County-level correlates of missed opportunities for HPV vaccination in Indiana: An environmental scan.
Vaccine
; 38(43): 6730-6734, 2020 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891476
14.
Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.
Am J Med Genet A
; 164A(8): 2121-3, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24753439
15.
Analysis of patient breast dose from a mammographic biopsy unit.
Australas Phys Eng Sci Med
; 42(1): 193-199, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30707352
16.
Ionoregulatory Aspects of the Osmorespiratory Compromise during Acute Environmental Hypoxia in 12 Tropical and Temperate Teleosts.
Physiol Biochem Zool
; 88(4): 357-70, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26052633
17.
Gill paracellular permeability and the osmorespiratory compromise during exercise in the hypoxia-tolerant Amazonian oscar (Astronotus ocellatus).
J Comp Physiol B
; 185(7): 741-54, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26115689
18.
Mechanisms of Na+ uptake, ammonia excretion, and their potential linkage in native Rio Negro tetras (Paracheirodon axelrodi, Hemigrammus rhodostomus, and Moenkhausia diktyota).
J Comp Physiol B
; 184(7): 877-90, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106686
19.
Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.
Clin Kidney J
; 7(3): 303-5, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25852895
20.
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
J Clin Endocrinol Metab
; 99(7): E1300-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24708097