Results 211 to 220 of about 54,359 (360)

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

Formication with destruction of the nasal septum: A rare case report. [PDF]

SAGE Open Med Case Rep
White M, Evans D, Frey G, Johnson CC, Warner BF.   +4 more
europepmc   +1 more source

Solitary fibrofolliculoma on the nasal septum: a case report. [PDF]

Arch Craniofac Surg, 2023
Chi YH, Woo JY, Koh TK, Koo SK, Son H.
europepmc   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Endoscopic Management of Primary Adenoid Cystic Carcinoma of the Nasal Septum: A Case Report and Literature Review. [PDF]

Cureus
Matsunaga T, Umemoto S, Hirano T.
europepmc   +1 more source

Case of Destruction of Nasal Septum

, 1914
H. J. Davis
openalex   +1 more source

Surgical technique for reconstruction of the nasal septum: The pericranial flap [PDF]

, 2000
Vicente Paloma, Alberto Samper, Francisco Javier Cervera‐Paz   +2 more
openalex   +1 more source

Prevalence and Associated Factors of Olfactory and Gustatory Loss in Patients With Nasal Septal Deviation

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives This study aimed to evaluate the olfactory and gustatory functions of patients with nasal septal deviation (NSD) and identify the factors associated with olfactory loss (OL) and gustatory loss (GL). Design and Setting Retrospective data analysis of cohort group. Participants Two‐hundred fourteen adult patients with NSD at a tertiary
Ja‐Yoon Kim, Hyung‐Ju Cho, Chang‐Hoon Kim, Min‐Seok Rha   +3 more
wiley   +1 more source

Pediatric nasal septum pleomorphic adenoma: a case report. [PDF]

Am J Cancer Res
Feng J, Liu Y, He J, Jiao X.
europepmc   +1 more source

What Are the Causes of a Perforated Nasal Septum? [PDF]

, 2000
Nerys Williams
openalex   +1 more source