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American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
NPJ Genomic Medicine|March 6, 2023
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestationsFrances O Flanagan, Alexander M Holtz, Sara O Vargas, et al.
Newborn (Clarksville, Md.)|June 24, 2022
Current Understanding of Transfusion-associated Necrotizing Enterocolitis: Review of Clinical and Experimental Studies and a Call for More Definitive EvidenceMinesh Khashu, Christof Dame, Pascal M Lavoie, et al.
American Journal of Human Genetics|July 24, 2012
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresKaren Majczenko, Ann E Davidson, Sandra Camelo-Piragua, et al.
Basic Research in Cardiology|December 25, 2023
Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytesGu Li, He Huang, Yanshuang Wu, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingAlissa M D'Gama, William J Brucker, Tian Zhang, et al.
European Journal of Human Genetics : EJHG|January 23, 2023
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disordersQifei Li, Rohan Agrawal, Klaus Schmitz-Abe, et al.
Advanced Genetics (Hoboken, N.J.)|March 13, 2023
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome CohortElicia Estrella, Shira Rockowitz, Marielle Thorne, et al.
Scientific Reports|July 26, 2019
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 casesDahua Meng, Qifei Li, Xuehua Hu, et al.
Neuromuscular Disorders : NMD|May 8, 2012
Congenital myopathy caused by a novel missense mutation in the CFL2 geneC W Ockeloen, H J Gilhuis, R Pfundt, et al.
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