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Molecular Genetics & Genomic Medicine|December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scoresNina Ishorst, Leonie Henschel, Frederic Thieme, et al.
Molecular Genetics & Genomic Medicine|July 1, 2022
Further delineation of SLC9A3-related congenital sodium diarrheaEma Bogdanic, Thomas Müller, Peter Heinz-Erian, et al.
Molecular Genetics & Genomic Medicine|June 27, 2022
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from IranVahid Reza Yassaee, Arash Khojasteh, Farzad Hashemi-Gorji, et al.
Molecular Genetics & Genomic Medicine|November 25, 2022
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotypeAbeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, et al.
Molecular Genetics & Genomic Medicine|June 17, 2022
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemiaDagbjört Agnarsdóttir, Vaka Kristín Sigurjónsdóttir, Arna Rut Emilsdóttir, et al.
Molecular Genetics & Genomic Medicine|July 11, 2022
Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRSXilian Zhang, Hanjiang Chen, Ying Song, et al.
Molecular Genetics & Genomic Medicine|May 23, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosisTroy C Lund, Weston P Miller, Julie B Eisengart, et al.
Molecular Genetics & Genomic Medicine|May 23, 2019
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature reviewMarco Ritelli, Francisco Cammarata-Scalisi, Valeria Cinquina, et al.
Molecular Genetics & Genomic Medicine|May 23, 2019
Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencingChunhua Zhang, Bo Liang, Longwei Qiao, et al.
Molecular Genetics & Genomic Medicine|May 23, 2019
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactylyMuhammad Umair, Naveed Wasif, Alia M Albalawi, et al.
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