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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 5 6 Hits 1 – 20 of 106 1 Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Korb, Manisha; Peck, Allison; Alfano, Lindsay N... In: Orphanet journal of rare diseases, vol 17, iss 1 (2022) BASE Show details 2 The Genetics of Primary Ciliary Dyskinesia in Puerto Rico Wilfredo De Jesús-Rojas; José Muñiz-Hernández; Francisco Alvarado-Huerta; Jesús M. Meléndez-Montañez; Arnaldo J. Santos-López; Ricardo A. Mosquera In: Diagnostics; Volume 12; Issue 5; Pages: 1127 (2022) BASE Show details 3 Heritable changeability: Epimutation and the legacy of negative definition in epigenetic concepts Le Goff, Anne; Allard, Patrick; Landecker, Hannah 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) BASE Show details 4 Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology ... Wilson, Charles; Wilson, Teàrlach. - : The University of Edinburgh, 2021 BASE Show details 5 The strength of morphophonological schemas: Consonant mutations in Polish Czaplicki, Bartłomiej In: Glossa: a journal of general linguistics; Vol 6, No 1 (2021); 25 ; 2397-1835 (2021) BASE Show details 6 Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics Md. Ashrafuzzaman In: Membranes ; Volume 11 ; Issue 9 (2021) BASE Show details 7 Contemporary ghosts, moult of the novel ; Fantasmas contemporáneos, muda de la novela ; Fantômes contemporains, mue du roman Duval, Marine 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) BASE Show details 8 Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology Wilson, Charles; Wilson, Teàrlach. - : The University of Edinburgh, 2021 BASE Show details 9 Category-specific effects in Welsh mutation Hammond, Michael; Bell, Elise; Anderson, Skye; Webb-Davies, Peredur; Ohala., Diane; Carnie, Andrew; Brooks, Heddwen In: Glossa: a journal of general linguistics; Vol 5, No 1 (2020); 1 ; 2397-1835 (2020) Abstract: In this paper we investigate category-specific effects through the lens of Welsh mutation. Smith (2011) and Moreton et al. (2017) show that English distinguishes nouns and proper nouns in an experimental blending task. Here we show that Welsh distinguishes nouns, verbs, personal names, and place names in the mutation system. We demonstrate these effects experimentally in a translation task designed to elicit mutation intuitions and in several corpus studies. In addition, we show that these effects correlate with lexical frequency. Deeper statistical analysis and a review of the English data suggests that frequency is a more explanatory factor than part of speech in both languages. We therefore argue that these category-specific effects can be reduced to lexical frequency effects. Keyword: celtic; frequency; linguistics; morphology; mutation; part-of-speech; phonology; Welsh URL: https://www.glossa-journal.org/jms/article/view/1007 https://doi.org/10.5334/gjgl.1007 BASE Hide details 10 Phonological contrast and phonetic variation : the case of velars in Iwaidja Shaw, Jason A.; Carignan, Christopher; Agostini, Tonya G.. - : U.S., Linguistic Society of America, 2020 BASE Show details 11 The inconspicuous substratum : Indigenous Australian languages and the phonetics of stop contrasts in English on Croker Island Mailhammer, Robert (R16975); Sherwood, Stacey (S32379); Stoakes, Hywel. - : Netherlands, John Benjamins Publishing, 2020 BASE Show details 12 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 Lahbib, Saida; Trabelsi, Mediha; Dallali, Hamza... 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) BASE Show details 13 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Spurdle, Amanda B; Greville-Heygate, Stephanie; Antoniou, Antonis. - : BMJ, 2019. : J Med Genet, 2019 BASE Show details 14 Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Ansar, M.; Chung, H.L.; Al-Otaibi, A.... In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019) BASE Show details 15 The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture... 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) BASE Show details 16 The Historical Origin of Consonant Mutation in the Atlantic Languages Merrill, John Thomas Mayfield. - : eScholarship, University of California, 2018 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) BASE Show details 17 PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease Eva Bagyinszky; Hye-Mi Lee; Vo Van Giau... In: International Journal of Molecular Sciences ; Volume 19 ; Issue 9 (2018) BASE Show details 18 Polycythemia Vera - 1 Kwon, Gloria; To, Michelle. - 2018 BASE Show details 19 Polycythemia Vera - 2 Kwon, Gloria; To, Michelle. - 2018 BASE Show details 20 Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Ansar, M.; Riazuddin, S.; Sarwar, M.T.... In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018) BASE Show details Page: 1 2 3 4 5 6

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