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1.
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Am J Med Genet C Semin Med Genet
; 193(2): 128-138, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37296540
2.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37125634
3.
NRF2 activation with Protandim attenuates salt-induced vascular dysfunction and microvascular rarefaction.
Microcirculation
; 26(7): e12575, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31132190
4.
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Am J Med Genet A
; 179(3): 373-380, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30582773
5.
50 Years Ago in TheJournalofPediatrics: What's In a Name: Lessons Learned from Atypical Malformation Syndromes.
J Pediatr
; 241: 61, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35067288
6.
Mutation of Plekha7 attenuates salt-sensitive hypertension in the rat.
Proc Natl Acad Sci U S A
; 111(35): 12817-22, 2014 Sep 02.
Article
in English
| MEDLINE | ID: mdl-25136115
7.
The NRF2 knockout rat: a new animal model to study endothelial dysfunction, oxidant stress, and microvascular rarefaction.
Am J Physiol Heart Circ Physiol
; 310(4): H478-87, 2016 Feb 15.
Article
in English
| MEDLINE | ID: mdl-26637559
8.
Vascular dysfunction precedes hypertension associated with a blood pressure locus on rat chromosome 12.
Am J Physiol Heart Circ Physiol
; 307(8): H1103-10, 2014 Oct 15.
Article
in English
| MEDLINE | ID: mdl-25320330
9.
PhenoID, a language model normalizer of physical examinations from genetics clinical notes.
medRxiv
; 2024 Jan 03.
Article
in English
| MEDLINE | ID: mdl-37904943
10.
Reduced angiotensin II levels cause generalized vascular dysfunction via oxidant stress in hamster cheek pouch arterioles.
Microvasc Res
; 89: 134-45, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23628292
11.
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Int J Neonatal Screen
; 8(2)2022 Mar 23.
Article
in English
| MEDLINE | ID: mdl-35466195
12.
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Mol Genet Metab Rep
; 33: 100931, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36420423
13.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Pediatrics
; 150(1)2022 07 01.
Article
in English
| MEDLINE | ID: mdl-35642503
14.
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.
Int J Neonatal Screen
; 6(2)2020 Jun.
Article
in English
| MEDLINE | ID: mdl-32832707
15.
Evaluation of Vascular Control Mechanisms Utilizing Video Microscopy of Isolated Resistance Arteries of Rats.
J Vis Exp
; (130)2017 12 05.
Article
in English
| MEDLINE | ID: mdl-29286398
16.
Mitochondrial Hepatopathies.
Clin Liver Dis (Hoboken)
; 18(5): 243-250, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34840726
17.
Mutation of SH2B3 (LNK), a genome-wide association study candidate for hypertension, attenuates Dahl salt-sensitive hypertension via inflammatory modulation.
Hypertension
; 65(5): 1111-7, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25776069
18.
Serotonylation of vascular proteins important to contraction.
PLoS One
; 4(5): e5682, 2009 May 25.
Article
in English
| MEDLINE | ID: mdl-19479059
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