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case reports in genetics

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Short Name case reports in genetics
Abbreviated Name case reports in genetics
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Recent Articles (27 total)

2019
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
Koufakis, Theocharis;Sertedaki, Amalia;Tatsi, Elizabeth-Barbara;Trakatelli, Christina-Maria;Karras, Spyridon N.;Manthou, Eleni;Kanaka-Gantenbein, Christina;Kotsa, Kalliopi;Koufakis, Theocharis;Sertedaki, Amalia;Tatsi, Elizabeth-Barbara;Trakatelli, Christina-Maria;Karras, Spyridon N.;Manthou, Eleni;Kanaka-Gantenbein, Christina;Kotsa, Kalliopi;
Vol. 2019
282 views DOI Abstract
2019
Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient
Wong, Wai-Yu;Wong, Helen;Au, Elaine;Chan, Eric;Wong, Wai-Yu;Wong, Helen;Au, Elaine;Chan, Eric;
Vol. 2019
219 views DOI Abstract
2019
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Panigrahi, Inusha;Dhanorkar, Manoj;Suthar, Renu;Kumar, Chanchal;Baalaaji, Mullai;Thapa, Babu Ram;Kalra, Jasvinder;Panigrahi, Inusha;Dhanorkar, Manoj;Suthar, Renu;Kumar, Chanchal;Baalaaji, Mullai;Thapa, Babu Ram;Kalra, Jasvinder;
Vol. 2019
200 views DOI Abstract
2014
filled gap effect and semantic plausibility in brazilian portuguese sentence processing
;Marcus Maia
Vol. 24 , No. 49 , pp. -
200 views Abstract
2014
interdict in the uses of ‘ser’ and ‘assumir’ with object zero in the context of homosexuality
;Rafahel Jean Parintins Lima
Vol. 24 , No. 49 , pp. -
196 views Abstract
2013
phonology-morphology interface: theories, approaches and themes
;Carlos Alexandre Gonçalves
Vol. 23 , No. 47 , pp. -
185 views Abstract
2019
SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
Ramirez, J. M.;Rodríguez, F. A.;Echeverría, M. I.;Vargas, A. L.;Calderón, A. E.;Miatello, R. M.;Renna, N. F.;Ramirez, J. M.;Rodríguez, F. A.;Echeverría, M. I.;Vargas, A. L.;Calderón, A. E.;Miatello, R. M.;Renna, N. F.;
Vol. 2019
184 views DOI Abstract
2013
the association of the word ‘access’ with ‘internet’ in the two written text genres in english: a study on of corpus linguistics
;Jesiel Soares Silva
Vol. 23 , No. 47 , pp. -
184 views Abstract
2013
gradience and variation in focus constructions in brazilian portuguese
;Maria Luiza Braga;Diego Leite de Oliveira;Elisiene de Melo Barbosa
Vol. 23 , No. 47 , pp. -
176 views Abstract
2014
language variation and diversity in the teaching and learning of undergraduate learners of english: discussing the views of future professionals
;Ubiratã Kickhöfel Alves;Elisa Battisti
Vol. 24 , No. 48 , pp. -
170 views Abstract
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