Results 201 to 210 of about 87,827 (343)

Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults

Medical Journal of Australia, EarlyView.
Abstract Introduction Monogenic diabetes accounts for 2–5% of diabetes. Although its identification has substantial therapeutic implications, more than 80% of affected individuals are undiagnosed or misdiagnosed as having type 1 or 2 diabetes. This consensus statement reviews genetic testing for monogenic diabetes in adults and provides evidence‐based ...
Sunita MC De Sousa, Timothy ME Davis, James Harraway, Mark Greenslade, Kathy HC Wu, Ryan G Paul, Juliet Taylor, Aleena S Ali, Elif I Ekinci, Rinki Murphy, Jerry R Greenfield   +10 more
wiley   +1 more source

Association Between High Jugular Bulb and Sudden Sensorineural Hearing Loss: A Computed Tomography Based Study. [PDF]

Int J Gen Med
Wanting Y, Rafiq M, Wu J, Jin L, Liu G, Cheng C.   +5 more
europepmc   +1 more source

Birth prevalence, clinical sequelae, and management of congenital cytomegalovirus infections in Australia, 1999–2023: a national prospective study

Medical Journal of Australia, EarlyView.
Abstract Objectives To investigate the birth prevalence, clinical manifestations, and management of congenital cytomegalovirus (CMV) infections in Australia, 1999–2023. Study design Longitudinal observational study; analysis of prospectively collected Australian Paediatric Surveillance Unit (APSU) data. Setting, participants Australia, 1 January 1999 –
Ece Egilmezer, Suzy M Teutsch, Carlos Nunez, Stuart T Hamilton, Adam W Bartlett, Pamela Palasanthiran, Elizabeth J Elliott, William D Rawlinson   +7 more
wiley   +1 more source

Association Between Hematological Indices of Inflammation and Pathogenesis and Prognosis of Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-Analysis. [PDF]

J Int Adv Otol
Zhao R, He Y, Zhong C.
europepmc   +1 more source

The identification of the vowels with variation of temporal factors by sensorineural hearing-impaired.

, 1989
Akitoshi Yamada, Satoshi Imaizumi, Takashi Harada, Hiroshi Hosoi   +3 more
openalex   +2 more sources

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides [PDF]

, 1998
Xavier Estivill, Nancy Govea, Anna Barceló, E Perelló, Cèlia Bàdenas, E. herrera romero, Luis Moral, Rosaria Scozzari, Leila D'Urbano, Massimo Zeviani, Antonio Torroni   +10 more
openalex   +1 more source

Pediatric Sensorineural Hearing Loss [PDF]

Ear, Nose & Throat Journal, 2014
openaire   +2 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Lermoyez Syndrome: A Systematic Review and Narrative Synthesis of Reported Cases. [PDF]

Audiol Res
Sideris G, Katsis L, Karle S, Korres G.
europepmc   +1 more source

Sensorineural deafness of unknown origin and presbyacusis.

, 1989
Makito Okamoto
openalex   +2 more sources