Works matching IS 2324-9269 AND VI 7 AND IP 6 AND DT 2019

Results: 58

Cover.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.826
By:
- Zheng, Jinglei;
- Liu, Haochen;
- Zhan, Yuan;
- Liu, Yang;
- Wong, Sing‐Wai;
- Cai, Tao;
- Feng, Hailan;
- Han, Dong
Publication type:
Article
Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.674
By:
- Yu, Dongyi;
- Zhang, Kai;
- Han, Meiyan;
- Pan, Wei;
- Chen, Ying;
- Wang, Yunfeng;
- Jiao, Hongyan;
- Duan, Ling;
- Zhu, Qiying;
- Song, Xiaojie;
- Hong, Yan;
- Chen, Chen;
- Wang, Juan;
- Hui, Feng;
- Huang, Linzhou;
- Chen, Chongjian;
- Du, Yang
Publication type:
Article
Long noncoding RNA NEAT1 regulates the development of osteosarcoma through sponging miR‐34a‐5p to mediate HOXA13 expression as a competitive endogenous RNA.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.673
By:
- Ji, Shaolin;
- Wang, Shunsheng;
- Zhao, Xiaodan;
- Lv, Li
Publication type:
Article
Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.672
By:
- Deng, Hongyu;
- Chen, Ming;
- Guo, Xinwu;
- Heng, Jianfu;
- Xu, Xunxun;
- Peng, Limin;
- Jiang, Hui;
- Li, Guoli;
- Day, Julia X.;
- Li, Jinliang;
- Shan, Dongyong;
- Li, Yinghua;
- Zhou, Yanjie;
- Liu, Bin;
- Dai, Lizhong;
- Wang, Xiaochun;
- Wang, Jun
Publication type:
Article
Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.671
By:
- Xu, Chao;
- Jia, Wenyu;
- Cheng, Xiangdeng;
- Ying, Hui;
- Chen, Jing;
- Xu, Jin;
- Guan, Qingbo;
- Zhou, Xinli;
- Zheng, Dongmei;
- Li, Guimei;
- Zhao, Jiajun
Publication type:
Article
The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.707
By:
- Ugai, Tomotaka;
- Milne, Roger L.;
- Ito, Hidemi;
- Aronson, Kristan J.;
- Bolla, Manjeet K.;
- Chan, Tsun;
- Chan, Ching W.;
- Choi, Ji‐Yeob;
- Conroy, Don M.;
- Dennis, Joe;
- Dunning, Alison M.;
- Easton, Douglas F.;
- Gaborieau, Valerie;
- Gonzalez‐Neira, Anna;
- Hartman, Mikael;
- Healey, Catherine S.;
- Iwasaki, Motoki;
- John, Esther M.;
- Kang, Daehee;
- Kim, Sung‐Won
Publication type:
Article
Genetics and genomic medicine in Sri Lanka.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.744
By:
- Sirisena, Nirmala D.;
- Dissanayake, Vajira H. W.
Publication type:
Article
A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.730
By:
- Umino, Satoko;
- Kitamura, Miyuki;
- Katoh‐Fukui, Yuko;
- Fukami, Maki;
- Usui, Takeshi;
- Yatsuga, Shuichi;
- Koga, Yasutoshi
Publication type:
Article
The Enamel Phenotype in Homozygous Fam83h Truncation Mice.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.724
By:
- Wang, Shih‐Kai;
- Hu, Yuanyuan;
- Smith, Charles E.;
- Yang, Jie;
- Zeng, Chunhua;
- Kim, Jung‐Wook;
- Hu, Jan C‐C.;
- Simmer, James P.
Publication type:
Article
PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.721
By:
- Guo, Xiaoqing;
- Wu, Weimin;
- Gao, Hao;
- Li, Xiaofeng;
- He, Qizhi;
- Zhu, Yong;
- Liu, Na
Publication type:
Article
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next‐generation sequencing technology.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.720
By:
- Wang, Tao;
- Li, Qinggang;
- Shang, Shunlai;
- Geng, Guangrui;
- Xie, Yuansheng;
- Cai, Guangyan;
- Chen, Xiangmei
Publication type:
Article
Lnc‐GIHCG promotes cell proliferation and migration in gastric cancer through miR‐ 1281 adsorption.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.711
By:
- Liu, Guozheng;
- Jiang, Zaipeng;
- Qiao, Mingliang;
- Wang, Fengyong
Publication type:
Article
FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.710
By:
- García‐de Teresa, Benilde;
- Frias, Sara;
- Molina, Bertha;
- Villarreal, María Teresa;
- Rodriguez, Alfredo;
- Carnevale, Alessandra;
- López‐Hernández, Gerardo;
- Vollbrechtshausen, Lilia;
- Olaya‐Vargas, Alberto;
- Torres, Leda
Publication type:
Article
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.708
By:
- Cappuccio, Gerarda;
- Ugga, Lorenzo;
- Parrini, Elena;
- D'Amico, Alessandra;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.706
By:
- Zhang, Jie;
- Yang, Yang;
- Li, Peng;
- Yan, Yuanlong;
- Lv, Tao;
- Zhao, Tingting;
- Zeng, Xiaohong;
- Li, Dongmei;
- Zhou, Xiaoyan;
- Chen, Hong;
- Su, Jie;
- Yang, Tonghua;
- He, Jing;
- Zhu, Baosheng
Publication type:
Article
A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.705
By:
- Sakoh, Takashi;
- Sekine, Akinari;
- Mori, Takayasu;
- Mizuno, Hiroki;
- Kawada, Masahiro;
- Hiramatsu, Rikako;
- Hasegawa, Eiko;
- Hayami, Noriko;
- Yamanouchi, Masayuki;
- Suwabe, Tatsuya;
- Sawa, Naoki;
- Ubara, Yoshifumi;
- Fujimaru, Takuya;
- Sohara, Eisei;
- Shinichi, Uchida;
- Hoshino, Junichi;
- Takaichi, Kenmei
Publication type:
Article
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype‐phenotype correlation analyses of TP63‐related disorders.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.704
By:
- Zheng, Jinglei;
- Liu, Haochen;
- Zhan, Yuan;
- Liu, Yang;
- Wong, Sing‐Wai;
- Cai, Tao;
- Feng, Hailan;
- Han, Dong
Publication type:
Article
miR‐584‐5p regulates hepatocellular carcinoma cell migration and invasion through targeting KCNE2.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.702
By:
- Wei, Huamei;
- Wang, Jianchu;
- Xu, Zuoming;
- Lu, Yuan;
- Wu, Xianjian;
- Zhuo, Chenyi;
- Tan, Chuan;
- Tang, Qianli;
- Pu, Jian
Publication type:
Article
Diverse phenotypes in children with PAX2‐related disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.701
By:
- Deng, Haiyue;
- Zhang, Yanqin;
- Xiao, Huijie;
- Yao, Yong;
- Liu, Xiaoyu;
- Su, Baige;
- Zhang, Hongwen;
- Xu, Ke;
- Wang, Suxia;
- Wang, Fang;
- Ding, Jie
Publication type:
Article
Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.697
By:
- Fu, Xian‐Guo;
- Huang, Zhao;
- Zhou, Su‐Juan;
- Yang, Jing;
- Peng, Yun‐Juan;
- Cao, Luo‐Yuan;
- Guo, Hua;
- Wu, Guang‐Hui;
- Lin, Ying‐Hua;
- Huang, Bao‐Ying
Publication type:
Article
Cognition in adults with Williams syndrome—A 20‐year follow‐up study.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.695
By:
- Sauna‐aho, Oili;
- Bjelogrlic‐Laakso, Nina;
- Sirén, Auli;
- Kangasmäki, Virpi;
- Arvio, Maria
Publication type:
Article
Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.688
By:
- Hoang, Thanh T.;
- Lei, Yunping;
- Mitchell, Laura E.;
- Sharma, Shreela V.;
- Swartz, Michael D.;
- Waller, D. Kim;
- Finnell, Richard H.;
- Benjamin, Renata H.;
- Browne, Marilyn L.;
- Canfield, Mark A.;
- Lupo, Philip J.;
- McKenzie, Paige;
- Shaw, Gary M.;
- Agopian, A. J.
Publication type:
Article
Transcriptome analysis identifies metallothionein as biomarkers to predict recurrence in hepatocellular cacinoma.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.693
By:
- Wang, Sufang;
- Gribskov, Michael
Publication type:
Article
Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.690
By:
- Wang, Tao;
- Xuan, Zhaopeng;
- Dou, Yichen;
- Liu, Yang;
- Fu, Yanyan;
- Ren, Jingyan;
- Lu, Laijin
Publication type:
Article
A risk assessment model of acute liver allograft rejection by genetic polymorphism of CD276.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.689
By:
- Yu, Xiaobo;
- Wei, Bajin;
- Su, Rong;
- Yao, Jia;
- Feng, Xiaowen;
- Jiang, Guoping;
- Xie, Haiyang;
- Wu, Jian;
- Xu, Xiao;
- Zhang, Min;
- Zheng, Shusen;
- Zhou, Lin
Publication type:
Article
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.686
By:
- Newman, John H.;
- Shaver, Aaron;
- Sheehan, Jonathan H.;
- Mallal, Simon;
- Stone, John H.;
- Pillai, Shiv;
- Bastarache, Lisa;
- Riebau, Derek;
- Allard‐Chamard, Hugues;
- Stone, William M.;
- Perugino, Cory;
- Pilkinton, Mark;
- Smith, Scott A.;
- McDonnell, Wyatt J.;
- Capra, John A.;
- Meiler, Jens;
- Cogan, Joy;
- Xing, Kelly;
- Mahajan, Vinay S.;
- Mattoo, Hamid
Publication type:
Article
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.685
By:
- Li, Xinlei;
- Tan, Bo;
- Wang, Xiaoqian;
- Xu, Xiaofei;
- Wang, Cuicui;
- Zhong, Mingjun;
- Zhao, Qiuling;
- Bao, Zhongwei;
- Peng, Weihua;
- Zhang, Lei;
- Cheng, Jing;
- Lu, Yu;
- Wu, Peina;
- Yuan, Huijun
Publication type:
Article
Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.684
By:
- Hong, Sha;
- Wang, Li;
- Zhao, Dongying;
- Zhang, Yonghong;
- Chen, Yan;
- Tan, Jintong;
- Liang, Lili;
- Zhu, Tianwen
Publication type:
Article
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.682
By:
- Cappuccio, Gerarda;
- Brunetti‐Pierri, Raffaella;
- Torella, Annalaura;
- Pinelli, Michele;
- Castello, Raffaele;
- Casari, Giorgio;
- Nigro, Vincenzo;
- Banfi, Sandro;
- Simonelli, Francesca;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Myeloid malignancies‐related somatic mutations in aging individuals.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.683
By:
- Coutinho, Diego F.;
- Zalcberg, Ilana R.;
- Monte‐Mór, Bárbara C. R.
Publication type:
Article
Effects of RHD gene polymorphisms on distinguishing weak D or DEL from RhD− in blood donation in a Chinese population.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.681
By:
- Shi, Jie;
- Luo, Ying
Publication type:
Article
Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.680
By:
- Yang, Zhuo;
- Cui, Quexuan;
- Zhou, Wenzhe;
- Qiu, Ling;
- Han, Bing
Publication type:
Article
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.679
By:
- Ross, Jamila;
- Fennis, Willem;
- Leeuw, Nicole;
- Cune, Marco;
- Willemze, Annemieke;
- Rosenberg, Antoine;
- Ploos van Amstel, Hans‐Kristian;
- Créton, Marijn;
- Boogaard, Marie‐José
Publication type:
Article
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.677
By:
- Wang, Xiaozhen;
- Liu, Haimeng;
- Maimaitiaili, Amina;
- Zhao, Gang;
- Li, Sijie;
- Lv, Zheng;
- Wu, Di;
- Shi, Aiping;
- Guan, Xin;
- Jia, Hongyao;
- Li, Menghan;
- Song, Dong;
- Kang, Lihua;
- Han, Bing;
- Fu, Tong;
- Yang, Ming;
- Zhu, Zhu;
- Du, Ye;
- Song, Yanqiu;
- Hong, Jinghui
Publication type:
Article
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.676
By:
- Cassini, Thomas A.;
- Duncan, Laura;
- Rives, Lynette C.;
- Newman, John H.;
- Phillips, John A.;
- Koziura, Mary E.;
- Brault, Jennifer;
- Hamid, Rizwan;
- Cogan, Joy;
- Adams, Christopher;
- Adams, David;
- Alejandro, Mercedes;
- Allard, Patrick;
- Ashley, Euan;
- Azamian, Mashid;
- Bacino, Carlos;
- Balasubramanyam, Ashok;
- Barseghyan, Hayk;
- Beggs, Alan;
- Bellen, Hugo
Publication type:
Article
The association of nucleotide‐binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.675
By:
- Cai, Xulong;
- Xu, Qiaolan;
- Zhou, Chenrong;
- Zhou, Li;
- Dai, Weihua;
- Ji, Guanchi
Publication type:
Article
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.670
By:
- Li, Changxing;
- Liang, Jingyao;
- Chen, Pingjiao;
- Zeng, Kang;
- Xue, Rujun;
- Tian, Xin;
- Liang, Liuping;
- Wang, Qi;
- Shi, Minglan;
- Zhang, Xibao
Publication type:
Article
Estimation of CYP3A4*1B single nucleotide polymorphism in patients with recurrent Major Depressive Disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.669
By:
- Świechowski, Rafał;
- Jeleń, Agnieszka;
- Mirowski, Marek;
- Talarowska, Monika;
- Gałecki, Piotr;
- Pietrzak, Jacek;
- Wodziński, Damian;
- Balcerczak, Ewa
Publication type:
Article
Association between polymorphisms of MIR17HG and risk of colorectal cancer in the Chinese Han population.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.667
By:
- Chen, Peng;
- Bai, Yuwei;
- Li, Yaru;
- Yuan, Yuemin;
- Cheng, Yimin;
- Pang, Jianjian;
- Zhu, Hongli;
- Chen, Chao
Publication type:
Article
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.666
By:
- Lundin, Johanna;
- Markljung, Ellen;
- Baranowska Körberg, Izabella;
- Hofmeister, Wolfgang;
- Cao, Jia;
- Nilsson, Daniel;
- Holmdahl, Gundela;
- Barker, Gillian;
- Anderberg, Magnus;
- Vukojević, Vladana;
- Lindstrand, Anna;
- Nordenskjöld, Agneta
Publication type:
Article
BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.665
By:
- Pode‐Shakked, Naomi;
- Barel, Ortal;
- Pode‐Shakked, Ben;
- Eliyahu, Aviva;
- Singer, Amihood;
- Nayshool, Omri;
- Kol, Nitzan;
- Raas‐Rothschild, Annick;
- Pras, Elon;
- Shohat, Mordechai
Publication type:
Article
Reduction of expression of IL‐18, IL‐1β genes in the articular joint by sumac fruit extract (Rhus coriaria L.).
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.664
By:
- Momeni, Amin;
- Maghsoodi, Hossein;
- Rezapour, Sadegh;
- Shiravand, Mostafa;
- Mardani, Mahnaz
Publication type:
Article
Co‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.663
By:
- Wu, Chao;
- Cai, Qiong;
- You, Huajing;
- Zhou, Xiangxue;
- Chen, Dingbang;
- Mo, Guiling;
- Li, Xunhua
Publication type:
Article
Association of OPG gene polymorphisms with the risk of knee osteoarthritis among Chinese people.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.662
By:
- Qi, Yuxin;
- An, Feimeng;
- Wang, Jiaqi;
- Liu, Yuan;
- Gao, Hongyan;
- Ge, Zhe;
- Jiang, Enze;
- Cai, Donggao;
- Shi, Jianping;
- Wang, Jianzhong
Publication type:
Article
Association of PTPN22 polymorphism and its correlation with Graves' disease susceptibility in Polish adult population—A preliminary study.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.661
By:
- Wawrusiewicz‐Kurylonek, Natalia;
- Koper‐Lenkiewicz, Olga Martyna;
- Gościk, Joanna;
- Myśliwiec, Janusz;
- Pawłowski, Przemysław;
- Krętowski, Adam Jacek
Publication type:
Article
The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.660
By:
- Verbakel, Sanne K.;
- Fadaie, Zeinab;
- Klevering, B. Jeroen;
- van Genderen, Maria M.;
- Feenstra, Ilse;
- Cremers, Frans P. M.;
- Hoyng, Carel B.;
- Roosing, Susanne
Publication type:
Article
Prioritization and comprehensive analysis of genes related to major depressive disorder.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.659
By:
- Liu, Yi;
- Fan, Pengfei;
- Zhang, Shiyuan;
- Wang, Yidan;
- Liu, Dan
Publication type:
Article
The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.658
By:
- Rudolf, Gorazd;
- Lovrečić, Luca;
- Tul, Nataša;
- Teran, Nataša;
- Peterlin, Borut
Publication type:
Article
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.657
By:
- Scelsa, Barbara;
- Gasperini, Serena;
- Righini, Andrea;
- Iascone, Maria;
- Brazzoduro, Valeria G.;
- Veggiotti, Pierangelo
Publication type:
Article
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.656
By:
- Rymer, Karen;
- Shiang, Rita;
- Hsiung, Anting;
- Pandya, Arti;
- Bigdeli, Tim;
- Webb, Bradley T.;
- Rhodes, Jennifer
Publication type:
Article