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1.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet
; 109(11): 1960-1973, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36332611
2.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-28575647
3.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29851191
4.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Article
in English
| MEDLINE | ID: mdl-26166480
5.
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Hum Mol Genet
; 24(18): 5250-9, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26123493
6.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
; 24(25): 7171-81, 2015 Dec 20.
Article
in English
| MEDLINE | ID: mdl-26443594
7.
FRA2A is a CGG repeat expansion associated with silencing of AFF3.
PLoS Genet
; 10(4): e1004242, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24763282
8.
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Am J Hum Genet
; 91(4): 694-702, 2012 Oct 05.
Article
in English
| MEDLINE | ID: mdl-23000143
9.
Investigation of the expression of the EphB4 receptor tyrosine kinase in prostate carcinoma.
BMC Cancer
; 5: 119, 2005 Sep 20.
Article
in English
| MEDLINE | ID: mdl-16171530
10.
Anti-tumour effects of antibodies targeting the extracellular cysteine-rich region of the receptor tyrosine kinase EphB4.
Oncotarget
; 6(10): 7554-69, 2015 Apr 10.
Article
in English
| MEDLINE | ID: mdl-25831049
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