Results 201 to 210 of about 257,579 (343)

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

open access: yesAndrology, EarlyView.
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem   +6 more
wiley   +1 more source

CSF gushers in cochlear implantation: surgical planning and management. [PDF]

open access: yesBMC Surg
Hajjij A   +8 more
europepmc   +1 more source

Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family

open access: yesAndrology, EarlyView.
Abstract Couple infertility is a very ancient medical condition. One of the first descriptions of familial infertility/subfertility is contained in the first book of the Bible, Genesis, written in the 10th century BC and reporting tales from the oral tradition even occurred about 800 years earlier.
Manuela Simoni   +2 more
wiley   +1 more source

Characterizing and assessing vision‐related quality of life among patients discontinued treatment for neovascular age‐related macular degeneration

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose This study characterized and assessed vision‐related quality of life (VRQoL) in patients with neovascular age‐related macular degeneration (nAMD) who discontinued treatment with intravitreal anti‐vascular endothelial growth factor (anti‐VEGF), comparing them to those undergoing treatment.
Noreddin Shekho   +4 more
wiley   +1 more source

ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited. [PDF]

open access: yesClin Park Relat Disord
Kasprzak J   +5 more
europepmc   +1 more source

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