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Human Mutation|July 13, 2006
Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn diseaseSheila A Fisher, Jochen Hampe, Clive M Onnie, et al.
Human Mutation|July 13, 2006
Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markersFulvio Cruciani, Roberta La Fratta, Antonio Torroni, et al.
Human Mutation|May 19, 2006
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutationsCarlo Rivolta, Terri L McGee, Thomas Rio Frio, et al.
Human Mutation|July 8, 2022
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiencyElena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, et al.
Human Mutation|January 23, 2019
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12Kunwar Jung-Kc, Nastassja Himmelreich, Karina S Prestegård, et al.
Human Mutation|January 23, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bondSarah Naessens, Julie De Zaeytijd, Delfien Syx, et al.
Human Mutation|November 5, 2019
Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformationsWei Guo, Yuchen Lai, Zhiqiang Yan, et al.
Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Human Mutation|November 7, 2019
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexiaGali Heimer, Geeske M van Woerden, Ortal Barel, et al.
Human Mutation|February 12, 2019
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2Ellen F Macnamara, Alanna E Koehler, Precilla D'Souza, et al.
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