Results 221 to 230 of about 888,724 (339)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Hearing Loss in Young Adults: Risk Factors, Mechanisms and Prevention Models. [PDF]

Biomedicines
Fleser RC, Necula V, Ujvary LP, Osman A, Orasan A, Maniu AA.   +5 more
europepmc   +1 more source

Evaluation of the validity of the Psychology Experiment Building Language tests of vigilance, auditory memory, and decision making

, 2015
Brian J. Piper, Shane T. Mueller, Sara Talebzadeh, Min Jung Ki   +3 more
openalex   +1 more source

Functional Groups in the Avian Auditory System [PDF]

, 2009
Sarah M. N. Woolley, P. Gill, Thane Fremouw, Frédéric E. Theunissen   +3 more
openalex   +1 more source

Decoding Auditory Working Memory Load From EEG Alpha Oscillations. [PDF]

Psychophysiology
Yuan Y, Gayet S, Wisman DC, van der Stigchel S, van der Stoep N.   +4 more
europepmc   +1 more source

Binaural Auditory Outcomes in Patients with Postlingual Profound Unilateral Hearing Loss: 3 Years after Cochlear Implantation [PDF]

, 2015
Griet Mertens, Andrea Kleine Punte, Marc De Bodt, Paul Van de Heyning   +3 more
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

The Development of Audio-Tactile Spatial Integration: Unraveling Vision's Contribution. [PDF]

Dev Sci
Tonelli A, Senna I, Amadeo MB, Setti W, Domenici N, Signorini S, Cocchi E, Giammari G, Strazzer S, Tinelli F, Camicione P, Serafino M, Gori M.   +12 more
europepmc   +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

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