Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. [PDF]
We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373).
Bonafé, L. +14 more
core +3 more sources
Coronal codas and phonotactics in Tupi-Guarani languages
This paper discusses the phonotactic organization of conservative Tupi-Guarani languages, and of Proto-Tupi-Guarani, by focusing on the analysis of the word-final/pre-pausal coronal approximant [j].
Fernando Órphão de Carvalho
doaj +1 more source
Spoken word classification in children and adults [PDF]
Purpose: Preschool children often have difficulties in word classification, despite good speech perception and production. Some researchers suggest they represent words using phonetic features rather than phonemes.
Carroll, Julia M., Myers, Joanne M.
core +1 more source
A perfect end: A study of syllable codas in South African Sign Language
South African Sign Language (SASL) is an understudied language with a rich and interesting phonology. For instance, while the language allows onsetless syllables, it does not allow codaless syllables, except in a small class of signs which do not include
Köhlo, Mikhaela D. K. +2 more
doaj +1 more source
The Interaction of Yer Deletion and Nasal Assimilation in Optimality Theory1 [PDF]
The problem of opacity presents a challenge for generative phonology. This paper examines the process of Nasal Assimilation in Polish rendered opaque by the process of Vowel Deletion in Optimality Theory (Prince & Smolensky, 1993), which currently is a ...
Iwan, Karolina
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Set the controls for the heart of the alternation: Dahl’s Law in Kitharaka [PDF]
This paper looks at Dahl’s Law, a voicing dissimilation process found in a number of Bantu languages, in Kitharaka, and argues that it is best analysed within a framework of minimal (contrastive) feature spe- cifications.
Uffmann, Christian
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Contextual and combinatorial structure in sperm whale vocalisations
Sperm whales (Physeter macrocephalus) are highly social mammals that communicate using sequences of clicks called codas. While a subset of codas have been shown to encode information about caller identity, almost everything else about the sperm whale ...
Pratyusha Sharma +6 more
doaj +1 more source
Immunohistochemical Analysis of IL-1 Receptor 1 In the Discs of Patients with Temporomandibular Joint Dysfunction [PDF]
Objective Temporomandibular joint dysfunction (TMD) may affect a patient’s quality of life, and one of the etiologies can be anterior disc displacement with reduction (ADDwR) and anterior disc displacement without reduction (ADDWoR).
Almeida, Luis Eduardo +8 more
core +2 more sources
Los procesos de nasalización en bribri en el marco de la teoría de la optimidad
A nivel fonológico, la lengua bribri no posee consonantes nasales, pero sí cuenta con una serie de fonemas vocálicos nasales que contrastan con las vocales orales.
Haakon S. Krohn
doaj +1 more source
The interaction of syllabification and voicing perception in american english [PDF]
The current paper explores these two sorts of phonetic explanations of the relationship between syllabic position and the voicing contrast in American English.
Jong, Kenneth de +2 more
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