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- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing
- Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
- Two females with hair loss
- Disorders of Sex Development
- XX/XY chimerism in tortoiseshell tomcats – a new case and review of the literature
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