Works matching IS 23249269 AND DT 2025 AND VI 13 AND IP 1

Results: 14

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70062

By:

Cui, Li‐min;
Hu, Hua‐ying;
Zhai, Xiao‐mei;
Qi, Ming‐fei;
Liu, Yan‐ming;
Han, Cong‐ying;
Zhang, Jing;
Shen, Ming;
Xiang, Yu‐lan;
Chen, Wen‐qi;
Yang, Kai;
Zhang, Dong‐liang;
Xing, Huan‐xia

Publication type:

Article

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.

Published in:

2025

By:

Lee, Hane;
Moon, Dongseok;
Khang, Rin;
Seo, Go Hun;
Yoon, Chang Ki;
Park, Un Chul;
Park, Kyu Hyung;
Lee, Eun Kyoung

Publication type:

Case Study

RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70059

By:

Liu, Qian;
Li, Feifei;
Ruan, Qin;
Wang, Nana;
Fan, Zhengjun

Publication type:

Article

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70058

By:

Yang, Ying;
Chen, Liqing;
Wang, Zhenzhen;
Ding, Yaling;
Liu, Yan

Publication type:

Article

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70057

By:

Ghasemi, Mohammad‐Reza;
Esmaeilizadeh, Zahra;
Tehrani Fateh, Sahand;
Sadeghi, Hossein;
Bagheri, Saman;
Hashemi‐Gorji, Farzad;
Sheikhi Nooshabadi, Morteza;
Madannezhad, Rasoul;
Tavabe Ghavami, Toktam Sadat;
Mirfakhraie, Reza;
Miryounesi, Mohammad

Publication type:

Article

Phenylbutyric Acid Modulates Apoptosis and ER Stress‐Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70054

By:

Parezanovic, Marina;
Stevanovic, Nina;
Andjelkovic, Marina;
Ugrin, Milena;
Pavlovic, Sonja;
Stojiljkovic, Maja;
Skakic, Anita

Publication type:

Article

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70052

By:

Al‐Hamed, Mohamed H.;
Qari, Alya;
Alrayes, Lamya;
Alotaibi, Mohammed;
Al Masseri, Zainab;
Alotaibi, Afaf;
AlAshwal, Abdullah;
AlHassnan, Zuhair N.;
Alsagheir, Afaf

Publication type:

Article

A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.

Published in:

2025

By:

Anvar, Zahra;
Jafarpour, Farnoosh;
Jahromi, Bahia Namavar;
Riccio, Andrea;
Nasr‐Esfahani, Mohammad Hossein;
Cubellis, Maria Vittoria

Publication type:

Case Study

Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70050

By:

Zhang, Zhiping;
Chen, Jiayao;
Zhang, Lei;
Wei, Ruiyang;
Liu, Zhen;
Zhao, Dunmei;
Bi, Xingyu;
Liang, Lixia;
Zhang, Xueluo;
Su, Dan;
Wu, Xueqing

Publication type:

Article

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Published in:

2025

By:

Nakamura, Kohta;
Yatsuka, Yukiko;
Naito, Sachie;
Hasegawa, Akira;
Kasukawa, Takeya;
Kondo, Atsushi;
Kishita, Yoshihito;
Sugiyama, Yohei;
Onuki, Takanori;
Ebihara, Tomohiro;
Tsuruoka, Tomoko;
Fushimi, Takuya;
Ohtake, Akira;
Murayama, Kei;
Imai‐Okazaki, Atsuko;
Okazaki, Yasushi

Publication type:

Case Study

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70047

By:

Kashevarova, A. A.;
Lopatkina, M. E.;
Vasilyeva, O. Yu.;
Fedotov, D. A.;
Lobanov, A. D.;
Fonova, E. A.;
Zhalsanova, I. Z.;
Zarubin, A. A.;
Salyukova, O. A.;
Belyaeva, E. O.;
Petrova, V. V.;
Ravzhaeva, E. G.;
Agafonova, A. A.;
Cheremnykh, A. D.;
Torkhova, N. B.;
Vovk, S. L.;
Lebedev, I. N.

Publication type:

Article

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70036

By:

Zheng, Haixia;
Cheng, Chongsheng;
He, Miao;
Zhou, Wangji;
Li, Yixuan;
Dai, Jinrong;
Zhang, Ting;
Xu, Kai‐Feng;
Zhang, Xue;
Tian, Xinlun;
Liu, Yaping

Publication type:

Article

Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.2506

By:

Zhang, Shuai;
Fu, Guanyu;
Sun, Gongping;
Tang, Yuanxin;
Meng, Jin;
Wang, Zhigang;
Su, Rongjun;
Liu, Wei;
Li, Xiaoxia

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.2454
Publication type:: Article