Results 181 to 190 of about 2,269,019 (331)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Interaural correlation of acoustic hearing preservation following sequential cochlear implantation. [PDF]

Front Neurol
Kocharyan A, Chu C, Kashani R, Scheperle RA, Bennion DM, Coleman S, Rasche E, Oleson JJ, Gantz BJ, Dunn CC, Hansen MR.   +10 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

FUNCTIONAL TESTS OF HEARING: SOME OF THE PRINCIPLES ON WHICH THEY ARE BASED.

, 1903
William Lincoln Ballenger
openalex   +2 more sources

SUBSYSTEM OF EXERCISES IS SUBSTANTIATED TO FORM ENGLISH LEXICAL COMPETENCE IN STUDENTS OF THE 5TH GRADE WITH HEARING IMPAIRMENTS: ORGANIZATIONAL PRINCIPLES OF APPROBATION

, 2020
Олена Дробот
openalex   +1 more source

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

Prevalence of Hearing Loss in Diagnosed Patients with Meningitis

, 2023
Arifa Saif, Eshah Nadeem, Malik M. Qasim, Farzana Mazhar, Muhammad Shazaib Khan, Asma Sani, Abeer Kazmi   +6 more
openalex   +2 more sources

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

Beyond the auditory system: cognitive implications of age-related hearing loss. [PDF]

Front Aging Neurosci
Paciello F, Pisani A, Fetoni AR, Grassi C.   +3 more
europepmc   +1 more source

Comparing of the Standing Balance-Abilities Between Cochlear Implant and Hearing Aid for the 2~3year Old Children

, 2015
SONGBRIAN BYUNG
openalex   +1 more source