Associated Papers
Isolated Congenital Anosmia: Case Report and Literature Review.
Alotaibi NH et al.
Ear, Nose, & Throat Journal, 2025
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
34539727 (PubMed )
Supplement: Table_2.XLSX › Feuil1
Eight rare urinary disorders in a patient with Kallmann syndrome: A case report.
Tian H et al.
Medicine, 2020
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.
Correa-Silva SR et al.
Journal of Neuroendocrinology, 2018
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S et al.
Brain : a Journal of Neurology, 2013
Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.
Entrala-Bernal C et al.
Hormones (athens, Greece), 0
Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency.
Ji W et al.
Asian Journal of Andrology, 0
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