Works in Molecular Genetics & Genomic Medicine, 2019, Vol 7, Issue 9

Results: 64

Cover.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.970

By:

Zhang, Yanghui;
Li, Haoxian;
Liu, Jing;
Yan, Huiming;
Liu, Qin;
Wei, Xianda;
Xi, Hui;
Jia, Zhengjun;
Wu, Lingqian;
Wang, Hua

Publication type:

Article

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.931

By:

Barboza‐Cerda, María Carmen;
Barboza‐Quintana, Oralia;
Martínez‐Aldape, Gerardo;
Garza‐Guajardo, Raquel;
Déctor, Miguel Angel

Publication type:

Article

AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout‐NLS‐lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue‐specificity.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.929

By:

Liang, Tian;
Hu, Yuanyuan;
Smith, Charles E.;
Richardson, Amelia S;
Zhang, Hong;
Yang, Jie;
Lin, Brent;
Wang, Shih‐Kai;
Kim, Jung‐Wook;
Chun, Yong‐Hee;
Simmer, James P.;
Hu, Jan C.‐C.

Publication type:

Article

Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST).

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.927

By:

Ylä‐Outinen, Heli;
Loponen, Niina;
Kallionpää, Roope A.;
Peltonen, Sirkku;
Peltonen, Juha

Publication type:

Article

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.926

By:

Sun, Xiaomin;
Zhong, Xuefei;
Li, Tingsong

Publication type:

Article

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.915

By:

Muru, Kai;
Reinson, Karit;
Künnapas, Kadi;
Lilleväli, Hardo;
Nochi, Zahra;
Mosegaard, Signe;
Pajusalu, Sander;
Olsen, Rikke K. J.;
Õunap, Katrin

Publication type:

Article

Evolutionary history of disease‐susceptibility loci identified in longitudinal exome‐wide association studies.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.925

By:

Yasukochi, Yoshiki;
Sakuma, Jun;
Takeuchi, Ichiro;
Kato, Kimihiko;
Oguri, Mitsutoshi;
Fujimaki, Tetsuo;
Horibe, Hideki;
Yamada, Yoshiji

Publication type:

Article

Novel IFT140 variants cause spermatogenic dysfunction in humans.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.920

By:

Wang, Xiong;
Sha, Yan‐wei;
Wang, Wen‐ting;
Cui, Yuan‐qing;
Chen, Jie;
Yan, Wei;
Hou, Xiao‐tao;
Mei, Li‐bin;
Yu, Cui‐cui;
Wang, Jiahui

Publication type:

Article

Interleukin 10 gene polymorphisms and frailty syndrome in elderly Mexican people: (Sadem study).

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.918

By:

Juárez‐Cedillo, Teresa;
Vargas‐Alarcón, Gilberto;
Martínez‐Rodríguez, Nancy;
Juárez‐Cedillo, Enrique;
Fragoso, José Manuel;
Escobedo‐de‐la‐Peña, Jorge

Publication type:

Article

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.917

By:

Khan, Amjad;
Han, Shirui;
Wang, Rongrong;
Ansar, Muhammad;
Ahmad, Wasim;
Zhang, Xue

Publication type:

Article

Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.916

By:

Zhang, Yu;
Wang, Zhirong;
Huang, Sijian;
Sun, Limei;
Zhao, Shiying;
Zhong, Yimin;
Xiao, Huiming;
Ding, Xiaoyan

Publication type:

Article

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.922

By:

Salyakina, Daria;
Roy, Sharmeen;
Wang, Weize;
Oliva, Mailin;
Akhouri, Rohan;
Sotto, Ileana;
Mulas, Nicole;
Solano, Rafaela;
Fernández, José R.;
Sanchez, Stephanie;
Shamshad, Uzma;
Perlyn, Chad;
McCafferty‐Fernandez, Jennifer

Publication type:

Article

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.914

By:

Kraoua, Ichraf;
Karkar, Adnane;
Drissi, Cyrine;
Benrhouma, Hanene;
Klaa, Hedia;
Samaan, Simon;
Renaldo, Florence;
Elmaleh, Monique;
Ben Hamouda, Mohamed;
Abdelhak, Sonia;
Boespflug‐Tanguy, Odile;
Ben Youssef‐Turki, Ilfghem;
Dorboz, Imen

Publication type:

Article

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.911

By:

Hannah, William B.;
DeBrosse, Suzanne;
Kinghorn, BreAnna;
Strausbaugh, Steven;
Aitken, Moira L.;
Rosenfeld, Margaret;
Wolf, Whitney E.;
Knowles, Michael R.;
Zariwala, Maimoona A.

Publication type:

Article

Circulating miR‐130 and its target PPAR‐γ may be potential biomarkers in patients of coronary artery disease with type 2 diabetes mellitus.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.909

By:

Yuan, Yonggang;
Peng, Wanzhong;
Liu, Yongxing;
Xu, Zesheng

Publication type:

Article

Association of single nucleotide polymorphisms of miRNAs involved in the GLUT4 pathway in T2DM in a Chinese population.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.907

By:

Li, Yiping;
Li, Chuanyin;
Yang, Man;
Shi, Li;
Tao, Wenyu;
Shen, Keyu;
Li, Xianli;
Wang, Xiaoling;
Yang, Ying;
Yao, Yufeng

Publication type:

Article

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.904

By:

Chen, Linlin;
Xue, Feng;
Xu, Jia;
He, Jinwei;
Fu, Wenzhen;
Zhang, Zhenlin;
Kang, Qinglin

Publication type:

Article

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.902

By:

Parveen, Asia;
Mirza, Muhammad U.;
Vanmeert, Michiel;
Akhtar, Javed;
Bashir, Hina;
Khan, Saadullah;
Shehzad, Saqib;
Froeyen, Matheus;
Ahmed, Wasim;
Ansar, Muhammad;
Wasif, Naveed

Publication type:

Article

Molecular investigation in Chinese patients with primary carnitine deficiency.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.901

By:

Zhang, Yanghui;
Li, Haoxian;
Liu, Jing;
Yan, Huiming;
Liu, Qin;
Wei, Xianda;
Xi, Hui;
Jia, Zhengjun;
Wu, Lingqian;
Wang, Hua

Publication type:

Article

POGZ de novo missense variants in neuropsychiatric disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.900

By:

Zhao, Wenjing;
Quan, Yingting;
Wu, Huidan;
Han, Lin;
Bai, Ting;
Ma, Linya;
Li, Bin;
Xun, Guanglei;
Ou, Jianjun;
Zhao, Jingping;
Hu, Zhengmao;
Guo, Hui;
Xia, Kun

Publication type:

Article

Research participants' experiences with return of genetic research results and preferences for web‐based alternatives.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.898

By:

Gaieski, Jill B.;
Patrick‐Miller, Linda;
Egleston, Brian L.;
Maxwell, Kara N.;
Walser, Sarah;
DiGiovanni, Laura;
Brower, Jamie;
Fetzer, Dominique;
Ganzak, Amanda;
McKenna, Danielle;
Long, Jessica M.;
Powers, Jacquelyn;
Stopfer, Jill E.;
Nathanson, Katherine L.;
Domchek, Susan M.;
Bradbury, Angela R.

Publication type:

Article

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.897

By:

Qiao, Fengchang;
Wang, Chen;
Luo, Chunyu;
Wang, Yan;
Shao, Binbin;
Tan, Jianxin;
Hu, Ping;
Xu, Zhengfeng

Publication type:

Article

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.896

By:

Rojnueangnit, Kitiwan;
Charalsawadi, Chariyawan;
Thammachote, Weerin;
Pradabmuksiri, Ariya;
Tim‐Aroon, Thipwimol;
Novelli, Antonio;
Loddo, Sara;
Briuglia, Silvana;
Concetta, Cutrupi M.;
Wattanasirichaigoon, Duangrurdee;
Jinawath, Natini

Publication type:

Article

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.894

By:

Lamari, Foudil;
Mauhin, Wladimir;
Koraichi, Fairouz;
Khrouf, Walid;
Bordet, Celine;
London, Jonathan;
Lidove, Olivier;
Charron, Philippe

Publication type:

Article

Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.893

By:

Zhao, Yali;
Zhang, Yuan;
Wang, Xiangdong;
Zhang, Luo

Publication type:

Article

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.892

By:

Jin, Sheng Chih;
Furey, Charuta G.;
Zeng, Xue;
Allocco, August;
Nelson‐Williams, Carol;
Dong, Weilai;
Karimy, Jason K.;
Wang, Kevin;
Ma, Shaojie;
Delpire, Eric;
Kahle, Kristopher T.

Publication type:

Article

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.885

By:

Huang, Xiangjun;
Guo, Yi;
Xu, Hongbo;
Yang, Zhijian;
Deng, Xiong;
Deng, Hao;
Yuan, Lamei

Publication type:

Article

Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.890

By:

Ji, Demin;
Xing, Wenhua;
Li, Feng;
Huang, Zhi;
Zheng, Wenkai;
Hu, Baoyang;
Niu, FangLin;
Zhu, Yong;
Yang, Xuejun

Publication type:

Article

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.889

By:

Malt, Eva Albertsen;
Juhasz, Katalin;
Frengen, Anna;
Wangensteen, Teresia;
Emilsen, Nina Merete;
Hansen, Borre;
Agafonov, Oleg;
Nilsen, Hilde Loge

Publication type:

Article

DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH).

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.887

By:

Baghdadi, Taghi;
Nejadhosseinian, Mohammad;
Shirkoohi, Reza;
Mostafavi Tabatabaee, Reza;
Tamehri, Seyed S.;
Saffari, Mojtaba;
Mortazavi, S. M. Javad

Publication type:

Article

Family still matters: Counseling patients with complex family histories of colon and endometrial cancers.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.886

By:

Gemmell, Amber P.;
Mauer, Caitlin B.;
Reys, Brian D.;
Pirzadeh‐Miller, Sara;
Ross, Theodora S.

Publication type:

Article

Genetics of recurrent pregnancy loss among Iranian population.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.891

By:

Moghbeli, Meysam

Publication type:

Article

Genetic polymorphisms analysis of pharmacogenomic VIP variants in Bai ethnic group from China.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.884

By:

Chen, Wanlu;
Ding, Heng;
Cheng, Yujing;
Li, Qi;
Dai, Run;
Yang, Xin;
Zhang, Chan

Publication type:

Article

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.883

By:

Yamamura, Tomohiko;
Nozu, Kandai;
Minamikawa, Shogo;
Horinouchi, Tomoko;
Sakakibara, Nana;
Nagano, China;
Aoto, Yuya;
Ishiko, Shinya;
Nakanishi, Koichi;
Shima, Yuko;
Nagase, Hiroaki;
Rossanti, Rini;
Ye, Ming J.;
Nozu, Yoshimi;
Ishimori, Shingo;
Morisada, Naoya;
Kaito, Hiroshi;
Iijima, Kazumoto

Publication type:

Article

Two novel GJA1 variants in oculodentodigital dysplasia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.882

By:

Pace, Nikolai P.;
Benoit, Valerie;
Agius, David;
Grima, Maria Angela;
Parascandalo, Raymond;
Hilbert, Pascale;
Borg, Isabella

Publication type:

Article

Whole‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.880

By:

Guo, Xiaopeng;
Gao, Lu;
Hong, Xiafei;
Guo, Dan;
Di, Wenyu;
Wang, Xiaoman;
Xu, Zhiqin;
Xing, Bing

Publication type:

Article

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.879

By:

Hawsawi, Yousef M.;
Al‐Numair, Nouf S.;
Sobahy, Turki M.;
Al‐Ajmi, Areej M.;
Al‐Harbi, Raneem M.;
Baghdadi, Mohammed A.;
Oyouni, Atif A.;
Alamer, Osama M.

Publication type:

Article

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.878

By:

Siavrienė, Evelina;
Mikštienė, Violeta;
Radzevičius, Darius;
Maldžienė, Živilė;
Rančelis, Tautvydas;
Petraitytė, Gunda;
Tamulytė, Giedrė;
Kavaliauskienė, Ingrida;
Šarkinas, Laurynas;
Utkus, Algirdas;
Kučinskas, Vaidutis;
Preikšaitienė, Eglė

Publication type:

Article

Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.876

By:

Zheng, Bixia;
Chen, Qiuxia;
Wang, Chunli;
Zhou, Wei;
Chen, Ying;
Ding, Guixia;
Jia, Zhanjun;
Zhang, Aihua;
Huang, SongMing

Publication type:

Article

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.875

By:

Lerat, Justine;
Magdelaine, Corinne;
Derouault, Paco;
Beauvais‐Dzugan, Hélène;
Bieth, Eric;
Acket, Blandine;
Arne‐Bes, Marie‐Christine;
Sturtz, Franck;
Lia, Anne‐Sophie

Publication type:

Article

Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.874

By:

Li, Shijie;
Zhang, Ce;
Liu, Nana;
Bai, Hui;
Hou, Cuihong;
Pu, Jielin

Publication type:

Article

Oncometabolites: A new insight for oncology.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.873

By:

Khatami, Fatemeh;
Aghamir, Seyed Mohammad Kazem;
Tavangar, Seyed Mohammad

Publication type:

Article

Relationships between SNPs and prognosis of breast cancer and pathogenic mechanism.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.871

By:

He, Yaning;
Liu, Hui;
Chen, Qi;
Shao, Yingbo;
Luo, Suxia

Publication type:

Article

Long noncoding RNA HOTTIP is associated with male infertility and promotes testicular embryonal carcinoma cell proliferation.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.870

By:

Su, Yang;
Zhou, Ling‐Ling;
Zhang, Yu‐Qing;
Ni, Liang‐Yu

Publication type:

Article

Impact of CHRNA5 polymorphisms on the risk of schizophrenia in the Chinese Han population.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.869

By:

Zhan, Dafei;
Yao, Qiankun;
Fu, Shaojian;
Liu, Xianglai;
Zhou, Jun;
Chen, Daqiang;
Yu, Chuanlong

Publication type:

Article

Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.868

By:

Zhu, Jianjiang;
Qi, Hong;
Cao, Sha;
Cai, Lirong;
Wen, Xiaohui;
Tang, Guodong;
Wan, Qian;
Chen, Chen;
Wang, Juan;
Zeng, Wen;
Luo, Yao

Publication type:

Article

A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.865

By:

Hancarova, Miroslava;
Babikyan, Davit;
Bendova, Sarka;
Midyan, Susanna;
Prchalova, Darina;
Shahsuvaryan, Gohar;
Stranecky, Viktor;
Sarkisian, Tamara;
Sedlacek, Zdenek

Publication type:

Article

Functional evaluation of a novel GLA causative mutation in Fabry disease.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.864

By:

Li, Ping;
Zhang, Lijuan;
Xiong, Qiuhong;
Wang, Zhe;
Cui, Xiaodong;
Zhou, Yong‐An;
Wang, Yuxian;
Xiao, Han;
Wu, Changxin

Publication type:

Article

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.863

By:

Keupp, Katharina;
Hampp, Stephanie;
Hübbel, Annette;
Maringa, Monika;
Kostezka, Sarah;
Rhiem, Kerstin;
Waha, Anke;
Wappenschmidt, Barbara;
Pujol, Roser;
Surrallés, Jordi;
Schmutzler, Rita K.;
Wiesmüller, Lisa;
Hahnen, Eric

Publication type:

Article

Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.862

By:

Park, Joonhong;
Jang, Woori;
Han, Ji Yoon

Publication type:

Article