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Basic Research in Cardiology|February 27, 2021
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variantHe Jiang, Charlotte Hooper, Matthew Kelly, et al.Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.Genome Medicine|July 26, 2022
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes ProjectAlexander J M Blakes, Htoo A Wai, Ian Davies, et al.American Journal of Medical Genetics. Part A|January 25, 2013
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsJohn C K Barber, Jill A Rosenfeld, Nicola Foulds, et al.Environmental Science and Pollution Research International|September 17, 2014
Effects of neonicotinoids and fipronil on non-target invertebratesL W Pisa, V Amaral-Rogers, L P Belzunces, et al.NPJ Genomic Medicine|January 14, 2022
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, et al.ERJ Open Research|April 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrumNisreen Rumman, Mahmoud R Fassad, Corine Driessens, et al.The European Respiratory Journal|January 22, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesiaAmelia Shoemark, Bruna Rubbo, Marie Legendre, et al.Environmental Science and Pollution Research International|September 20, 2014
Systemic insecticides (neonicotinoids and fipronil): trends, uses, mode of action and metabolitesN Simon-Delso, V Amaral-Rogers, L P Belzunces, et al.Journal of the Endocrine Society|July 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UKFederica Buonocore, Avinaash Maharaj, Younus Qamar, et al.Pageof 43