Works matching IS 2324-9269 AND VI 11 AND IP 5 AND DT 2023

Results: 17

Cover.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2199

By:

Grether, Anna;
Ivanovski, Ivan;
Russo, Martina;
Begemann, Anaïs;
Steindl, Katharina;
Abela, Lucia;
Papik, Michael;
Zweier, Markus;
Oneda, Beatrice;
Joset, Pascal;
Rauch, Anita

Publication type:

Article

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2168

By:

Jamshidi, Fereshteh;
Shokouhian, Ebrahim;
Mohseni, Marzieh;
Kahrizi, Kimia;
Najmabadi, Hossein;
Babanejad, Mojgan

Publication type:

Article

Circular RNA circ‐TSPAN4 promotes lung adenocarcinoma metastasis by upregulating ZEB1 via sponging miR‐665.

Published in:: 2023
Publication type:: Correction Notice

Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2150

By:

Wang, Fang;
Cheng, Haiqin;
Zhang, Qin;
Guo, Jin

Publication type:

Article

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2148

By:

Grether, Anna;
Ivanovski, Ivan;
Russo, Martina;
Begemann, Anaïs;
Steindl, Katharina;
Abela, Lucia;
Papik, Michael;
Zweier, Markus;
Oneda, Beatrice;
Joset, Pascal;
Rauch, Anita

Publication type:

Article

Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2147

By:

Lu, Linna;
Wang, Lingyu;
Shen, Wukang;
Fang, Shuai;
Zhao, Lidong;
Hu, Xuchen;
Yang, Linhua;
Wang, Gang

Publication type:

Article

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2146

By:

Zhang, Xin;
Qiu, Shiyan;
Yang, Li;
Li, Yufen;
Xu, Liyun;
Xu, Na;
Mi, Changrui;
Li, Menglin

Publication type:

Article

Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2145

By:

Luo, Xin;
Yang, Zailin;
Zeng, Jing;
Chen, Jing;
Chen, Ningxuan;
Jiang, Xiaoyan;
Wei, Qinlv;
Yi, Ping;
Xu, Jing

Publication type:

Article

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2138

By:

Naicker, Thirona;
Alade, Azeez;
Adeleke, Chinyere;
Mossey, Peter A.;
Awotoye, Waheed A.;
Busch, Tamara;
Li, Mary;
Olotu, Joy;
Aldous, Colleen;
Butali, Azeez

Publication type:

Article

Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2144

By:

Fei, Yangfan;
Liu, Lv;
Wu, Lixia;
Wang, Ou;
Xing, Xiaoping;
Li, Aiping;
Huang, Lingyi

Publication type:

Article

Access to healthcare for people with sickle cell disease: Views of healthcare professionals on policies and practices.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2142

By:

Adigwe, Obi Peter

Publication type:

Article

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2141

By:

Manotas, María Carolina;
Rivera, Ana Lucia;
Sanabria‐Salas, María Carolina

Publication type:

Article

Clinical and genetic findings in Chinese families with congenital ectopia lentis.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2140

By:

Liu, Xin;
Niu, Liman;
Zhang, Liyun;
Jiang, Liqiong;
Liu, Kaiqing;
Wu, Xueping;
Liu, Xinhua;
Wang, Jiantao

Publication type:

Article

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2143

By:

Lenarduzzi, Stefania;
Spedicati, Beatrice;
Alessandrini, Beatrice;
Tesolin, Paola;
Paldino, Alessia;
Gigli, Marta;
Sinagra, Gianfranco;
Gasparini, Paolo;
Ferro, Matteo Dal;
Girotto, Giorgia

Publication type:

Article

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

Published in:

2023

By:

Slaba, Katerina;
Jezova, Marta;
Pokorna, Petra;
Palova, Hana;
Tuckova, Jana;
Papez, Jan;
Prochazkova, Dagmar;
Jabandziev, Petr;
Slaby, Ondrej

Publication type:

Case Study

Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature.

Published in:

2023

By:

Garrigues, Guilhaume;
Batisse‐Lignier, Marie;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Kelly, Antony;
Gay‐Bellile, Mathilde;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean;
Cavaillé, Mathias

Publication type:

Case Study

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.1977
Publication type:: Article