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European Journal of Biochemistry|March 15, 1995
Distinct functional properties of three human paired-box-protein, PAX8, isoforms generated by alternative splicing in thyroid, kidney and Wilms' tumorsA Poleev, F Wendler, H Fickenscher, et al.Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.Magnetic Resonance in Chemistry : MRC|March 29, 2006
Electron spin resonance study of radicals generated in cellulose/N-methylmorpholine solutions after flash photolysis at 77 KA Konkin, F Wendler, H-K Roth, et al.Translational Psychiatry|July 27, 2012
Prefrontal dopamine and the dynamic control of human long-term memoryM Wimber, B H Schott, F Wendler, et al.European Journal of Human Genetics : EJHG|March 3, 2025
BCL11B-related disease: a single phenotypic entity?J Heather Vedovato-Dos-Santos, Rebecca S Tooze, Sivagamy Sithambaram, et al.European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.Journal of Medical Genetics|January 31, 2024
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndromeKerry A Miller, David A Cruz Walma, Daniel M Pinkas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.Pageof 3