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American Journal of Medical Genetics. Part A|June 9, 2006
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4Omar A Abdul-Rahman, Trang H La, Andrea Kwan, et al.Proceedings of the National Academy of Sciences of the United States of America|February 19, 2009
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemiaKondala R Atkuri, Tina M Cowan, Tony Kwan, et al.American Journal of Medical Genetics. Part A|October 14, 2003
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortionMargaret P Adam, Melanie A Manning, Anita E Beck, et al.Journal of Genetic Counseling|December 16, 2015
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic AcidemiaKimberly Splinter, Anna-Kaisa Niemi, Rachel Cox, et al.Journal of Quantitative Spectroscopy & Radiative Transfer|December 12, 2017
Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v2 band of ammonia near 10.4 μmRitobrata Sur, R Mitchell Spearrin, Wen Y Peng, et al.Glycobiology|April 23, 2015
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblastsPing He, Jeff E Grotzke, Bobby G Ng, et al.Pediatric Transplantation|April 25, 2022
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case seriesAlice C Huang, Noelle H Ebel, Danielle Romero, et al.Molecular Genetics and Metabolism|April 23, 2022
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access programJerry Vockley, Gregory M Enns, Antonio Nino Ramirez, et al.Biological Chemistry|May 19, 2005
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein functionAndré B P Van Kuilenburg, Rutger Meinsma, Eva Beke, et al.Pediatrics|August 3, 2004
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrumMelanie A Manning, Suzanne B Cassidy, Carol Clericuzio, et al.Pageof 14