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1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37207645
2.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38753057
3.
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.
Am J Med Genet A
; 194(1): 100-102, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37706616
4.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37534744
5.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35227688
6.
Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing.
Clin Chem
; 68(5): 627-632, 2022 05 18.
Article
in English
| MEDLINE | ID: mdl-35584795
7.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Article
in English
| MEDLINE | ID: mdl-37841849
8.
Characterization of responses initiated by different Toll-like receptor 2 ligands in chicken spleen cells.
Res Vet Sci
; 95(3): 919-23, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23911311
9.
Chicken erythrocytes respond to Toll-like receptor ligands by up-regulating cytokine transcripts.
Res Vet Sci
; 95(1): 87-91, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23433682
10.
Treatment with ligands for toll-like receptors 2 and 5 induces a mixed T-helper 1- and 2-like response in chicken splenocytes.
J Interferon Cytokine Res
; 32(12): 592-8, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23030671
11.
Characterization of responses elicited by Toll-like receptor agonists in cells of the bursa of Fabricius in chickens.
Vet Immunol Immunopathol
; 149(3-4): 237-44, 2012 Oct 15.
Article
in English
| MEDLINE | ID: mdl-22884396
12.
Toll-like receptor ligands induce the expression of interferon-gamma and interleukin-17 in chicken CD4+ T cells.
BMC Res Notes
; 5: 616, 2012 Nov 01.
Article
in English
| MEDLINE | ID: mdl-23116495
13.
Characterization of chicken thrombocyte responses to Toll-like receptor ligands.
PLoS One
; 7(8): e43381, 2012.
Article
in English
| MEDLINE | ID: mdl-22916253
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