Search details
1.
The genetics of incontinence: A scoping review.
Clin Genet
; 104(1): 22-62, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36973883
2.
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis.
Hum Genomics
; 16(1): 13, 2022 04 20.
Article
in English
| MEDLINE | ID: mdl-35443721
3.
Differences in the urinary metabolome and proteome between wet and dry nights in children with monosymptomatic nocturnal enuresis and nocturnal polyuria.
Pediatr Nephrol
; 38(10): 3347-3358, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37140712
4.
Brain proteome changes in female Brd1+/- mice unmask dendritic spine pathology and show enrichment for schizophrenia risk.
Neurobiol Dis
; 124: 479-488, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30590179
5.
Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.
Eur J Pediatr
; 177(9): 1399-1405, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-29594432
6.
Quantitative assessment of methyl-esterification and other side reactions in a standard propionylation protocol for detection of histone modifications.
Proteomics
; 16(14): 2059-63, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27080621
7.
New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Orphanet J Rare Dis
; 18(1): 130, 2023 05 31.
Article
in English
| MEDLINE | ID: mdl-37259144
8.
Urine and kidney cytokine profiles in experimental unilateral acute and chronic hydronephrosis.
Scand J Urol Nephrol
; 46(2): 91-6, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22150692
9.
The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation.
Transl Psychiatry
; 12(1): 319, 2022 08 08.
Article
in English
| MEDLINE | ID: mdl-35941107
10.
Inactivation of the Schizophrenia-associated BRD1 gene in Brain Causes Failure-to-thrive, Seizure Susceptibility and Abnormal Histone H3 Acetylation and N-tail Clipping.
Mol Neurobiol
; 58(9): 4495-4505, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34056693
11.
Genome-wide association study implicates CHRNA2 in cannabis use disorder.
Nat Neurosci
; 22(7): 1066-1074, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31209380
12.
The importance of data structure in statistical analysis of dendritic spine morphology.
J Neurosci Methods
; 296: 93-98, 2018 02 15.
Article
in English
| MEDLINE | ID: mdl-29287746
13.
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Nat Genet
; 50(5): 668-681, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29700475
14.
Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus.
Case Rep Nephrol Dial
; 7(3): 130-137, 2017.
Article
in English
| MEDLINE | ID: mdl-29177155
15.
The Schizophrenia-Associated BRD1 Gene Regulates Behavior, Neurotransmission, and Expression of Schizophrenia Risk Enriched Gene Sets in Mice.
Biol Psychiatry
; 82(1): 62-76, 2017 07 01.
Article
in English
| MEDLINE | ID: mdl-27837920
16.
The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.
J Biol Chem
; 283(23): 15694-700, 2008 Jun 06.
Article
in English
| MEDLINE | ID: mdl-18400758
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