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