case reports in genetics

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Short Name	case reports in genetics
Abbreviated Name	case reports in genetics
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Aim and Scope	EN Turkish Spanish Portuguese Arabic Chinese French German Indonesian Russian Thai
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Publications Per Year

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

218 views DOI Abstract

2014

filled gap effect and semantic plausibility in brazilian portuguese sentence processing

;Marcus Maia

Vol. 24 , No. 49 , pp. -

199 views 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

198 views DOI 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. -

195 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

183 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. -

182 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. -

174 views Abstract