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bmc medical genetics

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Indexations
doaj ulakbim sci
Nom Abrégé bmc med genet
Nom Abrégé bmc med genet
ISSN 1471-2350
Objectifs et Portée
URL https://link.springer.com/journal/12881
Instructions aux Auteurs

Publications Per Year

Recent Articles (4 total)

2009
ALDH1A2 (RALDH2) genetic variation in human congenital heart disease
MF, Mesquita Sonia;P, Marques Lívia;Michelle, Vasconcelos;M, Cravo Roberta;J, Sobreira Tiago;A, Silva Fábio;F, Ruiz Viviane;Marilene, Pavan;E, Krieger José;AB, Lopes Antônio;S, Oliveira Paulo;C, Pereira Alexandre;José, Xavier-Neto;
Vol. 10 , No. 1 , pp. 113-
360 views Abstract
2018
A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report.
Xu, Peiwen;Huang, Sexing;Li, Jie;Zou, Yang;Gao, Ming;Kang, Ranran;Yan, Junhao;Gao, Xuan;Gao, Yuan;
Vol. 19 , No. 1 , pp. 198
344 views DOI Abstract
2019
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara, Lukana;Wattanasirichaigoon, Duangrurdee;Tim-Aroon, Thipwimol;Rojnueangnit, Kitiwan;Noojaroen, Saisuda;Khongkraparn, Arthaporn;Sawangareetrakul, Phannee;Ketudat-Cairns, James R;Charoenwattanasatien, Ratana;Champattanachai, Voraratt;Kuptanon, Chulaluck;Pangkanon, Suthipong;Svasti, Jisnuson;
Vol. 20 , No. 1 , pp. 156
270 views DOI Abstract
2019
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.
Noavar, Sadaf;Behroozi, Samira;Tatarcheh, Taraneh;Parvini, Farshid;Foroutan, Majid;Fahimi, Hossein;
Vol. 20 , No. 1 , pp. 147
191 views DOI Abstract
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