Results 301 to 310 of about 1,956,484 (356)
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Argyrophilic nucleolar organizer regions (AgNOR) in gastric cell of obese patients with bariatric surgery. [PDF]
Gamsizkan Z +3 more
europepmc +1 more source
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko +3 more
wiley +1 more source
Neovascular glaucoma: comprehensive evaluation of etiology, treatment modalities, and visual prognosis. [PDF]
Gerçeker Demircan S, Şanal Doğan A.
europepmc +1 more source
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino +8 more
wiley +1 more source
Predicting Stroke Etiology with Radiomics: A Retrospective Study. [PDF]
Porto-Álvarez J +13 more
europepmc +1 more source
Profile and Management Outcomes of Neurotrophic Keratitis at A Tertiary Eye Hospital in Saudi Arabia: A Cohort Study. [PDF]
Al Azaz R, Khandekar R, Al Ghadeer H.
europepmc +1 more source
The genetic etiology of early-onset hearing loss in Newfoundland and Labrador [PDF]
Jessica Squires
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