Results 191 to 200 of about 320,700 (338)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

The Effectiveness of Rehabilitation of Occupational Voice Disorders in a Health Resort Hospital Environment. [PDF]

J Clin Med, 2021
Sinkiewicz A, Garstecka A, Mackiewicz-Nartowicz H, Nawrocka L, Wojciechowska W, Szkiełkowska A.   +5 more
europepmc   +1 more source

Low-Cost High-Speed Imaging System for Observing Vocal Fold Vibration in Voice Disorders [PDF]

, 2012
Kenichi Kaneko, Koichi Sakaguchi, Masato Inoue, Haruo Takahashi   +3 more
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

Active Ingredients of Voice Therapy for Muscle Tension Voice Disorders: A Retrospective Data Audit. [PDF]

J Clin Med, 2021
Madill C, Chacon A, Kirby E, Novakovic D, Nguyen DD.   +4 more
europepmc   +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

Convergent evidence for a pitch deficit in hyperfunctional voice disorders. [PDF]

JASA Express Lett
Best V, Duque T, Abur D, Stepp CE.
europepmc   +1 more source

Two-dimensional Scheme for Arranging Voice Disorders.

JAMA Otolaryngol Head Neck Surg, 2022
Amir O, Gutman I, Baken RJ, Primov-Fever A, Hertzog N, Noam G, Roziner I.   +6 more
europepmc   +1 more source

Prevalence of Voice Disorders in Healthcare Workers in the Universal Masking COVID-19 Era. [PDF]

Laryngoscope, 2021
Heider CA, Álvarez ML, Fuentes-López E, González CA, León NI, Verástegui DC, Badía PI, Napolitano CA.   +7 more
europepmc   +1 more source

Effectiveness of Weighted Noise Voice Treatment in a Dysphonic Patient with Unilateral Vocal Fold Paralysis and Motor Disorders-Voice Treatment Applying Lombard Effect-

, 2005
Nobuo Takahashi, Yuka Sasaki, Chieko Takano, Hirotatsu Takahashi, Masaaki Nagafuchi   +4 more
openalex   +2 more sources