Showing results (81-90 of 315) with videos related to

Sort By:
Pageof 32
Molecular Genetics & Genomic Medicine|July 27, 2023
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature reviewAtefeh Mir, Yongjun Song, Hane Lee, et al.
BMC Genomics|March 7, 2006
Gene connectivity, function, and sequence conservation: predictions from modular yeast co-expression networksMarc R J Carlson, Bin Zhang, Zixing Fang, et al.
BMC Medical Genetics|January 22, 2014
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophyMaria Carolina Ortube, Samuel P Strom, Stanley F Nelson, et al.
Human Mutation|August 19, 2007
Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndromeChristopher M Stanczak, Zugen Chen, Stanley F Nelson, et al.
Journal of Lipid Research|October 28, 2005
FXR regulates organic solute transporters alpha and beta in the adrenal gland, kidney, and intestineHans Lee, Yanqiao Zhang, Florence Y Lee, et al.
Frontiers in Cardiovascular Medicine|June 17, 2017
A Path to Implement Precision Child Health Cardiovascular MedicineMarlin Touma, Brian Reemtsen, Nancy Halnon, et al.
Nature Genetics|April 24, 2012
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeTobias Willer, Hane Lee, Mark Lommel, et al.
Hormones (Athens, Greece)|November 24, 2024
The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disordersMaria Karantza, Hane Lee, Sophia Kitsiou, et al.
Human Genetics|October 6, 2006
Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapseGanka Nikolova, Hane Lee, Suzanne Berkovitz, et al.
ACG Case Reports Journal|October 18, 2019
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with DiverticulosisAlvin P Chan, Milene Mulatinho, Paul Iskander, et al.
Pageof 32