Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T et al.
European Journal of Endocrinology, 2021
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
Marino M et al.
International Journal of Endocrinology, 2014
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M et al.
Human Molecular Genetics, 2012
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
Francou B et al.
Plos One, 2011
Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.
Silveira LG et al.
Brain Research, 2010
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
Young J et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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