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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
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In: Diagnostics; Volume 12; Issue 5; Pages: 1127 (2022)
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Heritable changeability: Epimutation and the legacy of negative definition in epigenetic concepts
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In: ISSN: 0039-3681 ; Studies in History and Philosophy of Science Part A ; https://hal.archives-ouvertes.fr/hal-03464083 ; Studies in History and Philosophy of Science Part A, Elsevier, 2021, 86, pp.35 - 46. ⟨10.1016/j.shpsa.2020.12.006⟩ (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology ...
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The strength of morphophonological schemas: Consonant mutations in Polish
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In: Glossa: a journal of general linguistics; Vol 6, No 1 (2021); 25 ; 2397-1835 (2021)
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Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics
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In: Membranes ; Volume 11 ; Issue 9 (2021)
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Contemporary ghosts, moult of the novel ; Fantasmas contemporáneos, muda de la novela ; Fantômes contemporains, mue du roman
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In: Scientific Journal on Cultural Hybridizations and Migrants’ Identities; Núm. 2: ; 81-102 ; Revista científica sobre hibridaciones culturales e identidades migrantes; Núm. 2: ; Revue scientifique sur les hybridations culturelles et les identités migrantes; Núm. 2: ; 2660-6259 (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology
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Category-specific effects in Welsh mutation
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In: Glossa: a journal of general linguistics; Vol 5, No 1 (2020); 1 ; 2397-1835 (2020)
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Phonological contrast and phonetic variation : the case of velars in Iwaidja
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Abstract:
A field-based ultrasound and acoustic study of Iwaidja, an endangered Australian Aboriginal language, investigates the phonetic identity of nonnasal velar consonants in intervocalic position, where past work has proposed a [+continuant] vs. [−continuant] phonemic contrast. We analyze the putative contrast within a continuous phonetic space, defined by both acoustic and articulatory parameters, and find gradient variation: from more consonantal realizations, such as [ɰ], to more vocalic realizations, such as [a]. The distribution of realizations across lexical items and speakers does not support the proposed phonemic contrast. This case illustrates how lenition that is both phonetically gradient and variable across speakers and words can give the illusion of a contextually restricted phonemic contrast.
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Keyword:
Aboriginal Australians; Iwaidja language; languages; mutation (phonetics); phonetics; XXXXXX - Unknown
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URL: https://doi.org/10.1353/lan.2020.0042 http://hdl.handle.net/1959.7/uws:57930
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The inconspicuous substratum : Indigenous Australian languages and the phonetics of stop contrasts in English on Croker Island
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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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The Historical Origin of Consonant Mutation in the Atlantic Languages
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In: Merrill, John Thomas Mayfield. (2018). The Historical Origin of Consonant Mutation in the Atlantic Languages. UC Berkeley: Linguistics. Retrieved from: http://www.escholarship.org/uc/item/1qn4m0bh (2018)
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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
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In: International Journal of Molecular Sciences ; Volume 19 ; Issue 9 (2018)
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
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In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
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