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Molecular Neurobiology|March 9, 2017
Variants of the EAAT2 Glutamate Transporter Gene Promoter Are Associated with Cerebral Palsy in Preterm InfantsShavanthi Rajatileka, David Odd, Matthew T Robinson, et al.Journal of Neuropathology and Experimental Neurology|July 30, 2015
BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the CerebellumClaire Faulkner, Hayley Patricia Ellis, Abigail Shaw, et al.Journal of the American Society of Nephrology : JASN|December 10, 2016
<i>MAGI2</i> Mutations Cause Congenital Nephrotic SyndromeAgnieszka Bierzynska, Katrina Soderquest, Philip Dean, et al.Muscle & Nerve|October 21, 2017
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophyGermán Morís, Libby Wood, Roberto FernáNdez-Torrón, et al.American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.Pediatric Nephrology (Berlin, Germany)|February 25, 2022
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney modelAgnieszka Bierzynska, Katherine Bull, Sara Miellet, et al.Scientific Reports|February 22, 2023
A multiplexed, paired-pooled droplet digital PCR assay for detection of SARS-CoV-2 in salivaKaitlyn Wagner, Phil Fox, Elizabeth Gordon, et al.American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B|November 7, 2013
A comparison of methods for EGFR mutation testing in non-small cell lung cancerElizabeth C Young, Martina M Owens, Idowu Adebiyi, et al.Pageof 5