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1.
ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Am J Hum Genet
; 102(6): 1158-1168, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29861105
2.
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Am J Med Genet A
; 185(1): 157-167, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33112498
3.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32985117
4.
Lack of functional P-selectin ligand exacerbates Salmonella serovar typhimurium infection.
J Immunol
; 182(10): 6550-61, 2009 May 15.
Article
in English
| MEDLINE | ID: mdl-19414810
5.
Characteristics of Orofacial Clefting in Hawai'i.
Hawaii J Health Soc Welf
; 78(8): 258-261, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31463475
6.
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Neurol Genet
; 5(2): e565, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-31192300
7.
Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.
Case Rep Genet
; 2013: 149085, 2013.
Article
in English
| MEDLINE | ID: mdl-23936691
8.
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
PLoS One
; 6(11): e27348, 2011.
Article
in English
| MEDLINE | ID: mdl-22132097
9.
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Nat Genet
; 43(11): 1074-81, 2011 Oct 02.
Article
in English
| MEDLINE | ID: mdl-21964572
10.
Regulation of type III secretion hierarchy of translocators and effectors in attaching and effacing bacterial pathogens.
Infect Immun
; 73(4): 2135-46, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15784556
11.
Dissecting virulence: systematic and functional analyses of a pathogenicity island.
Proc Natl Acad Sci U S A
; 101(10): 3597-602, 2004 Mar 09.
Article
in English
| MEDLINE | ID: mdl-14988506
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