Associated Papers
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.
Johansson M et al.
Journal of Clinical Medicine, 2023
36675424 (PubMed )
Supplement: jcm-12-00495-s001.zip › Tables_S1_and_S2.pdf
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A et al.
Archives of Medical Science : Ams, 2022
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E et al.
Plos One, 2020
33206719 (PubMed )
Supplement: pone.0242534.s004.xlsx › Foglio1
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
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