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1.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
J Med Genet
; 59(7): 691-696, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34215651
2.
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Genet Med
; 24(11): 2249-2261, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36074124
3.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34163037
4.
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Am J Med Genet A
; 182(5): 987-993, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32144877
5.
Family screening for hypertrophic cardiomyopathy: Is it time to change practice guidelines?
Eur Heart J
; 40(45): 3672-3681, 2019 12 01.
Article
in English
| MEDLINE | ID: mdl-31170284
6.
MiRNA-208a as a Sensitive Early Biomarker for the Postoperative Course Following Congenital Heart Defect Surgery.
Pediatr Cardiol
; 39(8): 1565-1571, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-29948028
7.
High-dose aspirin for Kawasaki disease: outdated myth or effective aid?
Clin Exp Rheumatol
; 35 Suppl 103(1): 209-212, 2017.
Article
in English
| MEDLINE | ID: mdl-28079513
8.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34522029
9.
Micro-RNA-208a, -208b, and -499 as Biomarkers for Myocardial Damage After Cardiac Surgery in Children.
Pediatr Crit Care Med
; 17(4): e193-7, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26886516
10.
Comparison of Speckle Tracking Echocardiography During Different Pacing Modalities for Cardiac Resynchronization Therapy Response Prediction.
Heart Int
; 16(1): 64-70, 2022.
Article
in English
| MEDLINE | ID: mdl-36275354
11.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Front Genet
; 13: 1018062, 2022.
Article
in English
| MEDLINE | ID: mdl-36699461
12.
Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes.
Sci Transl Med
; 14(676): eabo3724, 2022 12 21.
Article
in English
| MEDLINE | ID: mdl-36542693
13.
Preoperative miRNA-208a as a Predictor of Postoperative Complications in Children with Congenital Heart Disease Undergoing Heart Surgery.
J Cardiovasc Transl Res
; 13(2): 245-252, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31732917
14.
Lithium can relieve translational repression of TOP mRNAs elicited by various blocks along the cell cycle in a glycogen synthase kinase-3- and S6-kinase-independent manner.
J Biol Chem
; 280(7): 5336-42, 2005 Feb 18.
Article
in English
| MEDLINE | ID: mdl-15569665
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