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1.
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am J Hum Genet
; 99(3): 674-682, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27523597
2.
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Hum Mutat
; 33(2): 440-7, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22095531
3.
Comparing the variants of takotsubo syndrome: an observational study of the ECG and structural changes from a New Zealand tertiary hospital.
BMJ Open
; 9(5): e025253, 2019 05 05.
Article
in English
| MEDLINE | ID: mdl-31061024
4.
Abnormal folate metabolism in foetuses affected by neural tube defects.
Brain
; 130(Pt 4): 1043-9, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17438019
5.
Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.
Sci Rep
; 8(1): 7548, 2018 05 15.
Article
in English
| MEDLINE | ID: mdl-29765130
6.
Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line.
Neuropharmacology
; 99: 79-88, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26151765
7.
G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter.
PLoS One
; 9(12): e113955, 2014.
Article
in English
| MEDLINE | ID: mdl-25437198
8.
A population-based study of the diabetes paradox in stress cardiomyopathy.
N Z Med J
; 131(1485): 88-89, 2018 11 09.
Article
in English
| MEDLINE | ID: mdl-30408823
9.
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.
Am J Hum Genet
; 81(4): 700-12, 2007 Oct.
Article
in English
| MEDLINE | ID: mdl-17846996
10.
Epithelial cell polarity genes are required for neural tube closure.
Am J Med Genet C Semin Med Genet
; 135C(1): 42-7, 2005 May 15.
Article
in English
| MEDLINE | ID: mdl-15800847
11.
Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.
Genomics
; 79(5): 663-70, 2002 May.
Article
in English
| MEDLINE | ID: mdl-11991715
12.
Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia.
Mol Cell Neurosci
; 22(1): 62-74, 2003 Jan.
Article
in English
| MEDLINE | ID: mdl-12595239
13.
Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse.
Hum Mol Genet
; 12(2): 87-98, 2003 Jan 15.
Article
in English
| MEDLINE | ID: mdl-12499390
14.
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Hum Mol Genet
; 11(22): 2793-804, 2002 Oct 15.
Article
in English
| MEDLINE | ID: mdl-12374769
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