How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer+2 more
wiley +1 more source
ABSTRACT Introduction Saliva hormone measurement is increasingly being applied in everyday clinical practice. In relation to salivary cortisone measurement, there is a particular advantage, with minimal chance of cross‐reaction with prescribed glucocorticoids and greater convenience.
Mathilde Mordaunt+10 more
wiley +1 more source
[Corrigendum] MCMV triggers ROS/NLRP3‑associated inflammasome activation in the inner ear of mice and cultured spiral ganglion neurons, contributing to sensorineural hearing loss. [PDF]
Zhuang W+9 more
europepmc +1 more source
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut+7 more
wiley +1 more source
Influential publications in sudden hearing loss: a bibliometric and visual synopsis of the top 100 cited articles. [PDF]
Di X+7 more
europepmc +1 more source
X-LINKED CONGENITAL ADRENAL HYPOPLASIA, GONADOTROPIN DECICIENCY AND HIGH FREQUENCIES SENSORINEURAL HEARING LOSS [PDF]
R Balducci+7 more
openalex +1 more source
Cognitive Disorders In Acquired Sensorineural Hearing Loss, At The Ent Department Of The "Village Bondeko" Center, In Kinshasa. [PDF]
Masamba GR+11 more
europepmc +1 more source
Eleven cases of aortitis syndrome with sensorineural hearing loss.
Katsuhide Inagi+6 more
openalex +2 more sources