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Kidney International|October 22, 2015
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUTNayia Nicolaou, Sara L Pulit, Isaac J Nijman, et al.American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.Nature Communications|April 2, 2019
Identification of human D lactate dehydrogenase deficiencyGlen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.Pageof 3