bmc medical genetics

Indexings	doaj ulakbim sci
Short Name	bmc med genet
Abbreviated Name	bmc med genet
ISSN	1471-2350
Aim and Scope
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Publications Per Year

Recent Articles (4 total)

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

307 views DOI Abstract

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-

300 views 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

227 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

158 views DOI Abstract

Overall

Not Rated

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