Josianne N. Carrico
Covilha, 6200506, Portugal
Last Updated: 09/26/2026
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Found 8 publications
Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing.
Journal: International journal of molecular sciences
Published: October 17, 2024
Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Journal: Human reproduction open
Published: April 11, 2024
Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.
Journal: Frontiers in endocrinology
Published: April 17, 2023
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Journal: International journal of molecular sciences
Published: June 27, 2022
Postnatal Sox6 Regulates Synaptic Function of Cortical Parvalbumin-Expressing Neurons.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: January 05, 2021
KCC2 Regulates Dendritic Spine Formation in a Brain-Region Specific and BDNF Dependent Manner.
Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: October 17, 2017
Reducing premature KCC2 expression rescues seizure susceptibility and spine morphology in atypical febrile seizures.
Journal: Neurobiology of disease
Published: December 15, 2015
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Last Updated: 09/26/2026