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American Journal of Human Genetics|February 3, 2009
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systemsPiya Lahiry, Jian Wang, John F Robinson, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
Intellectual disability associated with a homozygous missense mutation in THOC6Chandree L Beaulieu, Lijia Huang, A Micheil Innes, et al.
Brain : a Journal of Neurology|February 9, 2022
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure thresholdPhilip H Iffland, Mariah E Everett, Katherine M Cobb-Pitstick, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 13, 2013
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroupKevin A Strauss, Lauren DuBiner, Mariella Simon, et al.
Molecular Genetics and Metabolism|October 18, 2020
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decadesKevin A Strauss, Katie B Williams, Vincent J Carson, et al.
Molecular Genetics and Metabolism|January 21, 2016
Living related versus deceased donor liver transplantation for maple syrup urine diseaseFlavia Feier, Ida Vanessa D Schwartz, Abigail R Benkert, et al.
Plos Genetics|September 27, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorderZineb Ammous, Lettie E Rawlins, Hannah Jones, et al.
Molecular Genetics and Metabolism|January 30, 2019
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontierLauren E Bowser, Millie Young, Olivia K Wenger, et al.
Ophthalmology|January 18, 2011
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndromeBrian G Mohney, Jose S Pulido, Noralane M Lindor, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 27, 2004
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of functionErik G Puffenberger, Diane Hu-Lince, Jennifer M Parod, et al.
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