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Human Genetics|November 29, 2022
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestationAlexandra Frohne, Martin Koenighofer, Hakan Cetin, et al.Human Genetics|December 24, 2022
Whole exome sequencing improves genetic diagnosis of fetal clubfootRuibin Huang, Hang Zhou, Chunling Ma, et al.Human Genetics|December 2, 2019
Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expressionRoman Tremmel, Kathrin Klein, Florian Battke, et al.Human Genetics|November 4, 2019
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinomaShih-Chi Su, Lun-Ching Chang, Chiao-Wen Lin, et al.Human Genetics|November 4, 2019
The genetic landscape of the human solute carrier (SLC) transporter superfamilyLena Schaller, Volker M LauschkeHuman Genetics|November 6, 2019
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotypePrzemyslaw Szafranski, Qian Liu, Justyna A Karolak, et al.Human Genetics|July 12, 1978
Kartagener's syndrome in sibs: clinical and immunologic investigationsH D Rott, H Warnatz, R Pasch-Hilgers, et al.Human Genetics|November 16, 2019
Maternal genetic diseases: potential concerns for mother and babyJulie Stone, Dallas ReedHuman Genetics|January 1, 1985
Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNAA J de Jonge, S de Smit, M A Kroos, et al.Human Genetics|January 1, 1985
Alpha-1-antitrypsin types in five Chinese national minoritiesQ L Ying, M L Zhang, C C Liang, et al.Pageof 957