molecular genetics & genomic medicine | Journament

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molecular genetics & genomic medicine

Indexings
ncbi ulakbim
Short Name mol genet genomic med
Abbreviated Name mol genet genomic med
ISSN 2324-9269
Aim and Scope
URL
Author Instructions

Publications Per Year

Recent Articles (10 total)

2019
Analysis of miRNA-mRNA regulatory network revealed key genes induced by aflatoxin B1 exposure in primary human hepatocytes.
Zhang, Ziyang;Tang, Dongyang;Wang, Bin;Wang, Zhiwei;Liu, Mingjiu;
, pp. e971
338 views DOI Abstract
2019
Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan, Melody Lok-Yi;Cheung, Ching-Lung;Lee, Alan Chun-Hong;Yeung, Chun-Yip;Siu, Chung-Wah;Leung, Jenny Yin-Yan;Pang, Ho-Kwong;Tan, Kathryn Choon-Beng;
Vol. 7 , No. 2 , pp. e00520
305 views DOI Abstract
2019
Metformin treatment in young children with fragile X syndrome.
Biag, Hazel Maridith B;Potter, Laura A;Wilkins, Victoria;Afzal, Sumra;Rosvall, Alexis;Salcedo-Arellano, Maria Jimena;Rajaratnam, Akash;Manzano-Nunez, Ramiro;Schneider, Andrea;Tassone, Flora;Rivera, Susan M;Hagerman, Randi J;
, pp. e956
257 views DOI Abstract
2019
Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.
Keicho, Naoto;Hijikata, Minako;Morimoto, Kozo;Homma, Sakae;Taguchi, Yoshio;Azuma, Arata;Kudoh, Shoji;
, pp. e1033
255 views DOI Abstract
2019
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Barboza-Cerda, María Carmen;Barboza-Quintana, Oralia;Martínez-Aldape, Gerardo;Garza-Guajardo, Raquel;Déctor, Miguel Angel;
, pp. e931
243 views DOI Abstract
2019
ENAM mutations and digenic inheritance.
Zhang, Hong;Hu, Yuanyuan;Seymen, Figen;Koruyucu, Mine;Kasimoglu, Yelda;Wang, Shih-Kai;Wright, John Timothy;Havel, Michael W;Zhang, Chuhua;Kim, Jung-Wook;Simmer, James P;Hu, Jan C-C;
, pp. e928
227 views DOI Abstract
2019
Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.
Chai, Hongyan;Grommisch, Brittany;DiAdamo, Autumn;Wen, Jiadi;Hui, Pei;Li, Peining;
, pp. e965
223 views DOI Abstract
2020
Developmental aspects of FXAND in a man with the FMR1 premutation.
Santos, Ellery;Emeka-Nwonovo, Chinelo;Wang, Jun Yi;Schneider, Andrea;Tassone, Flora;Hagerman, Paul;Hagerman, Randi;
, pp. e1050
212 views DOI Abstract
2019
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
Xiao, Bing;Wang, Lili;Liu, Huili;Fan, Yanjie;Xu, Yan;Sun, Yu;Qiu, Wenjuan;
, pp. e945
207 views DOI Abstract
2018
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders, Marie G;van Hout, Antonius F;Cosgun, Betûl;Paulussen, Aimée D;Leter, Edward M;Steijlen, Peter M;Mosterd, Klara;van Geel, Michel;Gille, Johan J;
Vol. 6 , No. 3 , pp. 409-415
181 views DOI Abstract
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