Search details
1.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Proc Natl Acad Sci U S A
; 120(16): e2214997120, 2023 04 18.
Article
in English
| MEDLINE | ID: mdl-37043537
2.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain
; 147(4): 1553-1570, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38128548
3.
Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.
PLoS Genet
; 16(8): e1008967, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32813698
4.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Am J Med Genet A
; 188(10): 2869-2878, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35899841
5.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet
; 58(7): 453-464, 2021 07.
Article
in English
| MEDLINE | ID: mdl-32631816
6.
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Proc Natl Acad Sci U S A
; 121(12): e2319578121, 2024 Mar 19.
Article
in English
| MEDLINE | ID: mdl-38466853
7.
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus.
Development
; 145(20)2018 10 18.
Article
in English
| MEDLINE | ID: mdl-30337486
8.
A case with CMTX1 disease showing transient ischemic-attack-like episodes.
Neurol Neurochir Pol
; 52(2): 285-288, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29153916
9.
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
Gastroenterology
; 145(1): 138-148, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23562752
10.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv
; 2023 Mar 20.
Article
in English
| MEDLINE | ID: mdl-36993720
11.
Endogenous contrast blood flow imaging in embryonic hearts using hemoglobin contrast subtraction angiography.
Opt Lett
; 37(14): 2979-81, 2012 Jul 15.
Article
in English
| MEDLINE | ID: mdl-22825198
12.
Evaluation of the isokinetic muscle strength, balance and anaerobic performance in patients with young male hypogonadism.
Endocr J
; 59(4): 321-7, 2012.
Article
in English
| MEDLINE | ID: mdl-22277727
13.
Xenopus Tadpole Craniocardiac Imaging Using Optical Coherence Tomography.
Cold Spring Harb Protoc
; 2022(5): Pdb.prot105676, 2022 06 07.
Article
in English
| MEDLINE | ID: mdl-34031211
14.
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
Nat Med
; 27(12): 2165-2175, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34887573
15.
Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
Sci Rep
; 10(1): 2791, 2020 Feb 12.
Article
in English
| MEDLINE | ID: mdl-32047215
16.
Prediction of testosterone response to human chorionic gonadotrophin in idiopathic hypogonadotropic hypogonadism patients.
J Natl Med Assoc
; 101(1): 71-6, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19245075
17.
Effects of General Anaesthesia on the Middle Ear Pressure.
Turk J Anaesthesiol Reanim
; 47(2): 92-97, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-31080949
18.
Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies.
Front Physiol
; 10: 1197, 2019.
Article
in English
| MEDLINE | ID: mdl-31620018
19.
Gaussian process post-processing for particle tracking velocimetry.
Biomed Opt Express
; 10(7): 3196-3216, 2019 Jul 01.
Article
in English
| MEDLINE | ID: mdl-31360598
20.
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
Sci Rep
; 9(1): 6196, 2019 04 17.
Article
in English
| MEDLINE | ID: mdl-30996265