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Molecular Genetics & Genomic Medicine|April 1, 2017
A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's diseaseMelinda Barkhuizen, David G Anderson, Francois H van der Westhuizen, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibilityShani Stuart, Miles C Benton, David A Eccles, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan AfricaLord Jephthah Joojo Gowans, Tamara D Busch, Peter A Mossey, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
Discordance in selected designee for return of genomic findings in the event of participant death and estate executorJessie L Goodman, Laura M Amendola, Martha Horike-Pyne, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 geneHideo Sasai, Yuka Aoyama, Hiroki Otsuka, et al.
Molecular Genetics & Genomic Medicine|July 19, 2019
Relationships between SNPs and prognosis of breast cancer and pathogenic mechanismYaning He, Hui Liu, Qi Chen, et al.
Molecular Genetics & Genomic Medicine|July 19, 2019
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2Meina Lin, Yongping Lu, Yu Sui, et al.
Molecular Genetics & Genomic Medicine|July 19, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assayAmir Jahic, Sven Günther, Nicole Muschol, et al.
Molecular Genetics & Genomic Medicine|July 25, 2019
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patientJustine Lerat, Corinne Magdelaine, Paco Derouault, et al.
Molecular Genetics & Genomic Medicine|July 25, 2019
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)Taghi Baghdadi, Mohammad Nejadhosseinian, Reza Shirkoohi, et al.
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