Featured
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Article |
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
- Anne Sophie Neyroud
- , Joëlle Rudinger-Thirion
- & Sylvie Jaillard
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Article |
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
- Mette Hansen Viuff
- , Kirstine Stochholm
- & Claus Højbjerg Gravholt
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Article |
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
- Núria Camats
- , Mónica Fernández-Cancio
- & Christa E. Flück
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Short Report |
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
- Jamal Ghoumid
- , Florence Petit
- & Sylvie Manouvrier-Hanu
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Short Report |
The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
- Alexander S Busch
- , Frank Tüttelmann
- & Jörg Gromoll
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Article |
A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis
- Elyssia Bourke
- , Pamela Snow
- & Sylvia Metcalfe
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Article |
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
- Amla Kuechler
- , Berthold P Hauffa
- & Jörg Gromoll