Results 241 to 250 of about 936,993 (368)

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti   +12 more
wiley   +1 more source

Preservation of the Vein of Labb^|^eacute; in the Approach of Skull Base Lesions

open access: bronze, 1993
Hideyuki Ohnishi   +8 more
openalex   +2 more sources

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold   +6 more
wiley   +1 more source

Anterior Skull Base Surgery for Secondary Malignancies in Retinoblastoma Survivors: Report of Two Cases [PDF]

open access: green, 1997
Keiichi Ichimura   +6 more
openalex   +1 more source

Unilateral Versus Bilateral Endoscopic Resection of Olfactory Neuroblastoma: Pooled Analysis From Prospective and Retrospective Multicenter Data

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy primarily treated with surgery. For tumors arising from the olfactory area, traditional treatment involves transcribriform resection of the anterior cranial fossa. Surgery can be performed with unilateral or bilateral resection depending on extent of involvement; however ...
Arash Abiri   +35 more
wiley   +1 more source

Advanced External Beam Stereotactic Radiotherapy for Skull Base Reirradiation. [PDF]

open access: yesCancers (Basel)
Wang H   +19 more
europepmc   +1 more source

Persistent Eosinophilic Inflammation Is Not a Feature of Type 2 CRS Patients Failing Anti‐IL‐5R Therapy and Requiring Class Switching to Anti‐IL‐4/13

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Type 2 inflammation dominates eosinophilic chronic rhinosinusitis (eCRS) and adult onset asthma. IL‐4, ‐5, and ‐13 are prominent disease mediators. Disease control can be achieved with biologic therapies. However, despite some patients entering remission, others experience poor control. Aim We aimed to describe eCRS patients treated
Peta‐Lee Sacks   +8 more
wiley   +1 more source

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