Results 201 to 210 of about 3,800,595 (386)

Atypical mismatch negativity to distressful voices associated with conduct disorder symptoms [PDF]

, 2013
A.Y. Hung, Jyrki Ahveninen, Yawei Cheng
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Acoustic signatures of organic lesions and the role of artificial intelligence in voice disorder diagnostics. [PDF]

Digit Health
Ma K, Wang Y, Zhou Y, Chen L, Zhang T, Xu F, Peng X.   +6 more
europepmc   +1 more source

NONLINEAR ACOUSTIC ANALYSIS IN THE EVALUATION OF OCCUPATIONAL VOICE DISORDERS [PDF]

, 2013
Ewa Niebudek-Bogusz, Jacek Grygiel, Paweł Strumiłło, Mariola Śliwińska‐Kowalska   +3 more
openalex   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Complementary approaches for voice disorder assessment

, 2007
Jean-François Bonastre, Corinne Fredouille, Alain Ghio, Antoine Giovanni, Gilles Pouchoulin, Joana Révis, Bernard Teston, Ping Yu   +7 more
openalex   +2 more sources

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Diagnosis of Functional Voice Disorders Based on Laryngeal Findings during Phonation and Efficacy of Voice Therapy

, 2007
Makoto Ogawa, Misao Yoshida, Tadashi Yoshii, Yukinori Takenaka, Yoshio Sugiyama, Takeshi Kubo   +5 more
openalex   +2 more sources

Variation of maximal Lyapunov exponent with voice disorders of pilots. [PDF]

, 2013
Robert Ruiz, Philippe Plantin de Hugues, Claude Legros   +2 more
openalex   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source