Results 131 to 140 of about 431,763 (337)

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe   +19 more
wiley   +1 more source

Comparison between intratympanic injection of dexamethasone and methylprednisolone in idiopathic sudden sensorineural hearing loss: A randomized clinical trial

open access: yesLaryngoscope Investigative Otolaryngology
Objective To compare the hearing outcomes of patients with idiopathic sudden sensorineural hearing loss after intratympanic (IT) injection of methylprednisolone and dexamethasone. Study design Randomized case‐controlled clinical trial.
Kourosh Eftekharian   +7 more
doaj   +1 more source

Wideband Absorbance Pattern and its Diagnostic Value in Adults with Middle Ear Effusions and Tympanic Membrane Perforation

open access: yesJournal of International Advanced Otology
BACKGROUND: Middle ear effusion (MEE) and tympanic membrane perforation (TMP) are difficult to distinguish using existing immittance techniques, necessitating the use of a separate test battery.
Arunraj Karuppannan   +2 more
doaj   +1 more source

Visualizing Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm   +2 more
wiley   +1 more source

Measures of narrative performance in Spanish-speaking children on the test of narrative language-Spanish [PDF]

open access: yes, 2014
textIn the field of speech-language pathology, there is an increasing need for valid and appropriate assessment measures for Spanish-speaking students that can reliably be given by examiners with a wide range of Spanish knowledge and scoring experience ...
Perme, Amanda Lee
core  

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

open access: yesAmerican 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

Analysis of Mucosal Wave and Vibratory Patterns in Vocally Healthy Children and Adults

open access: yesLaryngoscope Investigative Otolaryngology
Objective To conduct a systematic investigation and comparison of the mucosal wave of vocal fold oscillations, the longitudinal anterior–posterior (AP) vibratory patterns of opening and closing, and posterior glottal gap in vocally healthy children ...
Bernhard Jakubass   +4 more
doaj   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart   +2 more
wiley   +1 more source

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