Works matching IS 2324-9269 AND VI 11 AND IP 10 AND DT 2023

Results: 16

Systematic review on gene–sun exposure interactions in skin cancer.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2259

By:

Shraim, Rasha;
Farran, Mohamed Ziad;
He, George;
Marunica Karsaj, Jelena;
Zgaga, Lina;
McManus, Ross

Publication type:

Article

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2248

By:

Zhang, Qinxin;
Wang, Yan;
Zhou, Jing;
Zhou, Ran;
Liu, An;
Meng, Lulu;
Ji, Xiuqing;
Hu, Ping;
Xu, Zhengfeng

Publication type:

Article

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247

By:

Marshall, Aren E.;
MacDonald, Stella K.;
Liang, Yijing;
Couse, Madeline;
Boycott, Kym M.;
Richer, Julie;
Kernohan, Kristin D.

Publication type:

Article

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.

Published in:

2023

By:

Zhuang, Jianlong;
Liu, Shufen;
Wang, Junyu;
Chen, Yu'e;
Zhang, Hegan;
Jiang, Yuying;
Wang, Gaoxiong;
Chen, Chunnuan

Publication type:

Case Study

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2237

By:

Oladayo, Abimbola;
Gowans, Lord Jephthah Joojo;
Awotoye, Waheed;
Alade, Azeez;
Busch, Tamara;
Naicker, Thirona;
Eshete, Mekonen A.;
Adeyemo, Wasiu L.;
Hetmanski, Jacqueline B.;
Zeng, Erliang;
Adamson, Olawale;
Adeleke, Chinyere;
Li, Mary;
Sule, Veronica;
Kayali, Sami;
Olotu, Joy;
Mossey, Peter A.;
Obiri‐Yeboah, Solomon;
Buxo, Carmen J.;
Beaty, Terri

Publication type:

Article

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2236

By:

Bardakov, Sergey N.;
Deev, Roman V.;
Isaev, Аrtur А.;
Khromov‐Borisov, Nikita N.;
Kopylov, Evgeniy D.;
Savchuk, Мaria R.;
Pushkin, Maxim S.;
Presnyakov, Evgeniy V.;
Magomedova, Raisat M.;
Achmedova, Patimat G.;
Umakhanova, Zoya R.;
Kaimonov, Vladimir S.;
Musatova, Elizaveta V.;
Blagodatskikh, Konstantin А.;
Tveleneva, Aleksandra А.;
Sofronova, Yana V.;
Yakovlev, Ivan A.

Publication type:

Article

Exome sequencing findings in children with annular pancreas.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2233

By:

Pitsava, Georgia;
Pankratz, Nathan;
Lane, John;
Yang, Wei;
Rigler, Shannon;
Shaw, Gary M.;
Mills, James L.

Publication type:

Article

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2232

By:

Byrjalsen, Anna;
Stoltze, Ulrik;
Mehrjouy, Mana;
Frederiksen, Jane Hübertz;
Bak, Mads;
Birkedal, Ulf;
Hasle, Henrik;
Gerdes, Anne‐Marie;
Schmiegelow, Kjeld;
Wadt, Karin;
Hansen, Thomas van Overeem

Publication type:

Article

Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.

Published in:

2023

By:

Zhang, Sufen;
Zhou, Yuqiu;
Xiao, Gefei;
Qiu, Xianrong

Publication type:

Case Study

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2228

By:

Sun, Yueqian;
Zhou, Ziqi;
Wang, Qun;
Yan, Jing;
Zhang, Zaiqiang;
Cui, Tao

Publication type:

Article

Genome‐wide meta‐analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2226

By:

Yu, Yafen;
Zhen, Qi;
Chen, Weiwei;
Yu, Yanqin;
Li, Zhuo;
Wang, Yirui;
Fan, Wencheng;
Luo, Sihan;
Wang, Daiyue;
Bai, Yuanming;
Bian, Zhuan;
He, Miao;
Sun, Liangdan

Publication type:

Article

Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2225

By:

Zhao, Xiuying;
Chen, Tao;
Fu, Binsha;
Fu, Zhifu;
Xu, Kaishou;
Zhou, Wei

Publication type:

Article

Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2224

By:

Bonfim‐Freitas, Pedro E.;
Andrade, Roseani S.;
Ribeiro‐dos‐Santos, Ândrea K.;
Silva, Luiz C. Santana‐da

Publication type:

Article

Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2223

By:

Diao, Yanxia;
Sun, Weiwei;
Zhang, Zhen;
Zhao, Bing;
Chen, Xin

Publication type:

Article

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2221

By:

Hsu, Rai‐Hseng;
Chen, Hui‐An;
Chien, Yin‐Hsiu;
Hwu, Wuh‐Liang;
Lin, Ju‐Li;
Weng, Hui‐Ling;
Lin, Yi‐Ting;
Lin, Yu‐Ching;
Lee, Ni‐Chung

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.1982
Publication type:: Article