Results 201 to 210 of about 74,884 (346)

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

open access: yesAndrology, EarlyView.
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

Morning Salivary Cortisone Versus Serum Cortisol in the Overnight Dexamethasone Suppression Test (ODNST): Evaluation in a Clinical Setting

open access: yesClinical Endocrinology, EarlyView.
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

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, EarlyView.
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

X-LINKED CONGENITAL ADRENAL HYPOPLASIA, GONADOTROPIN DECICIENCY AND HIGH FREQUENCIES SENSORINEURAL HEARING LOSS [PDF]

open access: bronze, 1993
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]

open access: yesNeuropsychiatr Dis Treat
Masamba GR   +11 more
europepmc   +1 more source

Eleven cases of aortitis syndrome with sensorineural hearing loss.

open access: bronze, 1989
Katsuhide Inagi   +6 more
openalex   +2 more sources

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