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Molecular Genetics & Genomic Medicine|October 22, 2014
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegiaNina A Schlipf, Rebecca Schüle, Sven Klimpe, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart diseaseTobias Laurell, Daniel Nilsson, Wolfgang Hofmeister, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencingDaniel Trujillano, Gemma Bullich, Stephan Ossowski, et al.
Molecular Genetics & Genomic Medicine|October 22, 2014
Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluYKandai Nozu, Kazumoto Iijima, Yasufumi Ohtsuka, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
A novel mutation deep within intron 7 of the GBA gene causes Gaucher diseaseAnna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variantSatoru Takahashi, Ryo Takeguchi, Mami Kuroda, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosisEhsan Razmara, Homeyra Azimi, Amirreza Bitaraf, et al.
Molecular Genetics & Genomic Medicine|January 18, 2020
Compound heterozygous mutations in FBN1 in a large family with Marfan syndromeAideen M McInerney-Leo, Jennifer West, Lawrie Wheeler, et al.
Molecular Genetics & Genomic Medicine|November 21, 2020
MiR-485-3p serves as a biomarker and therapeutic target of Alzheimer's disease via regulating neuronal cell viability and neuroinflammation by targeting AKT3Ling Yu, Haiting Li, Wenhu Liu, et al.
Molecular Genetics & Genomic Medicine|November 6, 2020
Loss of CDKN2A at chromosome 9 has a poor clinical prognosis and promotes lung cancer progressionWei Liu, Congwen Zhuang, Tengfei Huang, et al.
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