You searched for "genomics"
Hearing loss and Alport syndrome
Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...Kallmann’s Syndrome
‘A rose by any other name would smell as sweet.’ (Shakespeare) Kallmann’s Syndrome (KS), or hereditary hypogonadal anosmia, is a rare genetic disorder characterised by delayed or absent puberty and anosmia. It is named after Franz Kallmann, but he was...In conversation with Dr John Woo and Mr Derek Skinner
Dr John Woo and Mr Derek Skinner have between them an absolute wealth of experience and expertise in the fields of surgical training and specialist examinations. Here, they tell us about their involvement in surgical education, and explain some of...In memory of Robert Allan Yorston (10th March 1920 – 1st October 2016)
In this special feature article, Alan Gibb writes a touching tribute to his friend and colleague Dr Bob Yorston, a Dundee otolaryngologist, who had a special talent for humour and art. In addition to illustrating the eighth, ninth and tenth...Adjoin™ bone conduction system
Patrik Westerkull (PW), Otorix AB, and Ann-Louise McDermott (A-LM), ENT Consultant at Birmingham Children’s Hospital, tell us about the Adjoin bone conduction device, a non-surgical bone-conduction option developed by Otorix. They explain how the product works, the background to the...
JAMA Network Reader
Accessing content from The Journal of the American Medical Association (JAMA) and its nine specialty journals (including JAMA Otolaryngology – Head & Neck Surgery) has now become a bit easier, thanks to an app designed for viewing JAMA articles on...
The ORL App: I challenge you to duel!
'Every day is a school day’ – an age-old saying that is as much a proverb as it is an instruction for allied health professionals. These days, it is hard to keep up with any sort of news - whether...Audiovisual antics – now you see it, now you don’t
This series of stories is dedicated to those of you with whom some of these moments were shared (or endured) and, above all, to my amazing and long-suffering husband, David Howard. Most of you know him as an exceptional head...Living with Usher syndrome
“Usher people often still have sharp, clear central vision. It is the corner of their eye that is missing. This is why the Usher person often does not feel or look blind. In the early days they may not even...In conversation with Frederik Dikkers
Declan Costello, editor of ENT & Audiology News, has recently enjoyed a couple of conversations with Professor Emeritus Frederik Dikkers that you can now watch on YouTube.9th Beijing International Audiology Conference
The 9th Beijing International Audiology Conference, organised by the Beijing Society of Audiology, was successfully held at the China National Convention Center. Nearly 1000 distinguished audiology experts and industry specialists from both China and overseas gathered for this significant occasion.
