Results 211 to 220 of about 788,696 (364)

Efficacy of incus reposition ossiculoplasty in middle ear cholesteatoma surgery. [PDF]

open access: yesEur Arch Otorhinolaryngol
Takai S   +5 more
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa   +7 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

Inside-Outside Mastoidectomy for Middle Ear Paragangliomas: Surgical Technique and Outcomes. [PDF]

open access: yesCureus
Ríos-Deidán C   +4 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Development and In Vivo Evaluation of a Novel Bioabsorbable Polylactic Acid Middle Ear Ventilation Tube. [PDF]

open access: yesJ Funct Biomater
Lu YC   +8 more
europepmc   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso   +14 more
wiley   +1 more source

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