Results 161 to 170 of about 777,793 (338)
An Objective Uniform Measure of Hearing as Supplied by the Amplitude of Vibration of Edelmann's C and G Tuning-Forks [PDF]
, 1903 Ostmann
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
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Annals of Agricultural and Environmental Medicine, 2015 [b]Introduction and objective[/b]. Hearing disorders among school-age children are a current concern. Continuing studies have been performed in Poland since 2008, and on 2 December 2011 the EU Council adopted Conclusions on the Early Detection and ...
Piotr H. Skarzynski +8 more
doaj
Traitement de la Surdité par la Ré-éducation de l'Ouäe (The Treatment of Deafness by Re-education of the Hearing). Par Dr A. Maurice Chez l'Auteur, 256, Boulevard St. Germain, Paris, N.D. [PDF]
, 1912 Dan McKenzie
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Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms
Hearing Research, 2017 M. Liberman, S. Kujawa
semanticscholar +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
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ON THE FUNCTIONS OF THE DIFFERENT PARTS OF THE ORGAN OF HEARING. [PDF]
ChL. Esser
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Clinical studies in disturbances of hearinf. Part 3. The hearing‐curve in cases of inspissated cerumen [PDF]
, 1907 Yankakauer
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong +16 more
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