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Molecular Genetics & Genomic Medicine|December 20, 2020
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patientsRehab M Mosaad, Khalda S Amr, Eman A Rabie, et al.
Molecular Genetics & Genomic Medicine|December 3, 2020
LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosisKarthik Muthusamy, Maciej M Mrugala, Bernard R Bendok, et al.
Molecular Genetics & Genomic Medicine|December 10, 2020
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotypeYanfang Mi, Danhua Liu, Beiping Zeng, et al.
Molecular Genetics & Genomic Medicine|December 6, 2020
A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosisQianyun Xu, Haiyan Tang, Liping Duan, et al.
Molecular Genetics & Genomic Medicine|September 8, 2022
Cohen syndrome in two patients from ChinaJiaoe Gong, Lily Zhang, Yanwei Long, et al.
Molecular Genetics & Genomic Medicine|September 25, 2022
The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature reviewWenyong Wu, Ruimin Chen
Molecular Genetics & Genomic Medicine|September 28, 2022
Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective studyFang-Fang Li, Wei-Jun Chen, Dan Yao, et al.
Molecular Genetics & Genomic Medicine|January 18, 2021
Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese familyMeina Lin, Ying Jin, Xinren Chen, et al.
Molecular Genetics & Genomic Medicine|March 22, 2021
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear causeLucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, et al.
Molecular Genetics & Genomic Medicine|March 23, 2021
Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta-analysis of diagnostic test accuracy studiesBounhome Soukkhaphone, Carmen Lindsay, Sylvie Langlois, et al.
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