Works matching IS 23249269 AND DT 2025 AND VI 13 AND IP 3

Results: 11

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70092

By:

Taniguchi, Kosuke;
Hasegawa, Fuyuki;
Okazaki, Yuka;
Hori, Asuka;
Ogata‐Kawata, Hiroko;
Aoto, Saki;
Migita, Ohsuke;
Kawai, Tomoko;
Nakabayashi, Kazuhiko;
Okamura, Kohji;
Fukui, Kana;
Wada, Seiji;
Ozawa, Katsusuke;
Ito, Yushi;
Sago, Haruhiko;
Hata, Kenichiro

Publication type:

Article

Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70091

By:

Wang, Yanan;
Zhou, Yong;
Chai, Yuqiong;
Zang, Weiwei;
Wang, Hongchao;
Yin, Fan;
Tan, Qianqian;
Chen, Zhigang

Publication type:

Article

Genome‐Wide Scan of Fifth Finger Clinodactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70090

By:

Lee, Myoung Keun;
Herrick, Noah;
Marazita, Mary L.;
Shaffer, John R.;
Weinberg, Seth M.

Publication type:

Article

Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70088

By:

Qi, Yongzhen;
Liu, Kai;
Wei, Yuda;
Liu, Xiaxia;
Jiang, Liangqian;
Teng, Juan;
Chong, Baoqiang;
Zheng, Shuqi;
Zhao, Xiangyu;
Li, Lin

Publication type:

Article

Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70086

By:

Lepage, Mathis;
Uhrhammer, Nancy;
Molnar, Ioana;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Bidet, Yannick;
Cavaillé, Mathias

Publication type:

Article

A Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70087

By:

Wang, Yan;
Xu, Ximin;
Ding, Yuzhe;
Yuan, Guohua

Publication type:

Article

A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70085

By:

Saeed, Tayyaba;
Bibi, Nousheen;
Ahmad, Ashfaq;
Khan, Saadullah;
Ansar, Muhammad;
Wasif, Naveed;
Kalsoom, Umm‐e‐

Publication type:

Article

Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70084

By:

Mirinezhad, Mohammad Reza;
Mirzaei, Farzaneh;
Salmaninejad, Arash;
Esfehani, Reza Jafarzadeh;
Seyedtaghia, Mohammad Reza;
Farahmand, Sheyda;
Toosi, Mehran Beiraghi;
Hashemian, Somayyeh;
Lewis, M. E. Suzzane

Publication type:

Article

A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70083

By:

Zhao, Lu;
Qiao, Zhi‐Dong;
Jia, Yue‐Xin;
Fu, Jun‐Xian;
Li, Tian‐Xia;
Jia, Kai‐Ru;
Zhao, Hong;
Bao, Jin‐Ping;
Yang, Xiao‐Fan;
Pan, Hao;
Yang, Guang‐Lu

Publication type:

Article

A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.70075

By:

Gong, Guo‐Qing;
Huang, Cheng‐Cheng;
Jin, Hui‐Yu;
Zhang, Zhao;
Yang, Chang‐Liang;
Yang, Guang;
Lu, Hui‐Fang;
Yang, Yue‐Bin;
Cao, Jing‐Yuan;
Chen, Rui‐Yao;
Li‐Wang;
Ji, Yi‐Ming;
Sun, Yi;
Lu, Yu

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 3, p. 1, doi. 10.1002/mgg3.2456
Publication type:: Article