Search details
1.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Article
in English
| MEDLINE | ID: mdl-35786744
2.
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level.
Bioinformatics
; 37(5): 723-725, 2021 05 05.
Article
in English
| MEDLINE | ID: mdl-32805025
3.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Int J Mol Sci
; 23(21)2022 Oct 26.
Article
in English
| MEDLINE | ID: mdl-36361767
4.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32658972
5.
Long read sequencing on its way to the routine diagnostics of genetic diseases.
Front Genet
; 15: 1374860, 2024.
Article
in English
| MEDLINE | ID: mdl-38510277
6.
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.
Biomolecules
; 13(2)2023 01 26.
Article
in English
| MEDLINE | ID: mdl-36830605
7.
Brain Angiotensinergic Regulation of the Immune System: Implications for Cardiovascular and Neuroendocrine Responses.
Endocr Metab Immune Disord Drug Targets
; 20(1): 15-24, 2020.
Article
in English
| MEDLINE | ID: mdl-31237219
8.
Vigilance States: Central Neural Pathways, Neurotransmitters and Neurohormones.
Endocr Metab Immune Disord Drug Targets
; 19(1): 26-37, 2019.
Article
in English
| MEDLINE | ID: mdl-30113008
9.
Neuroendocrine Mechanisms Involved in Male Sexual and Emotional Behavior.
Endocr Metab Immune Disord Drug Targets
; 19(4): 472-480, 2019.
Article
in English
| MEDLINE | ID: mdl-30706797
10.
Vasopressin in Heart Failure.
Endocr Metab Immune Disord Drug Targets
; 18(5): 458-465, 2018.
Article
in English
| MEDLINE | ID: mdl-29437026
11.
The Role of Neurohypophyseal Hormones Vasopressin and Oxytocin in Neuropsychiatric Disorders.
Endocr Metab Immune Disord Drug Targets
; 18(4): 341-347, 2018.
Article
in English
| MEDLINE | ID: mdl-29468985
12.
Synaptic Inputs of Neural Afferent Pathways to Vasopressin- and Oxytocin-Secreting Neurons of Supraoptic and Paraventricular Hypothalamic Nuclei.
Endocr Metab Immune Disord Drug Targets
; 16(4): 276-287, 2016.
Article
in English
| MEDLINE | ID: mdl-28056741
13.
Role of central and peripheral chemoreceptors in vasopressin secretion control.
Endocr Metab Immune Disord Drug Targets
; 13(3): 250-5, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-24032393
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