Results 191 to 200 of about 164,845 (267)

Bilateral middle ear cholesteatoma in children: A single-center retrospective study. [PDF]

Braz J Otorhinolaryngol
Wang X, Guo L, Tian E, Chen M, Liu W, Ni X, Zhang J.   +6 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

First reported case of an intradural otic polyp arising from a cranial nerve with concomitant middle ear cholesteatoma. [PDF]

Surg Neurol Int
Gujjari KS, Mariajoseph FP, Farsakh A, Chen BY, Thomas A, Kumar B, Lai L, Teh B, Gordon M, Praeger A.   +9 more
europepmc   +1 more source

Effect of middle ear fluid on sound transmission and auditory brainstem response in guinea pigs

, 2011
Xiying Guan, Rong Z. Gan
openalex   +2 more sources

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

A mechanical lumped-element model of the human middle ear for bone conduction hearing. [PDF]

Sci Rep
Guan X.
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Rare Presentations of Embryonal Rhabdomyosarcoma in the Middle Ear of a 3-Year-Old Boy and Girl. [PDF]

Niger Med J
Usman A, Shuaibu L, Dahiru A, Adam S.
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Restoration of High-Frequency Middle Ear Function in Partial Ossicular Discontinuity: A Basic Science and Clinical Correlation. [PDF]

Otol Neurotol
Fallon K, Inuzuka Y, Cheng JT, Rosowski JJ, Remenschneider AK.   +4 more
europepmc   +1 more source