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The Journal of Clinical Endocrinology and Metabolism|March 17, 2015
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadismYavuz Bayram, Suleyman Gulsuner, Tulay Guran, et al.
Cancer Research|March 5, 2016
Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to RelapseJason E Farrar, Heather L Schuback, Rhonda E Ries, et al.
JMIR Research Protocols|May 22, 2026
Effect of a Personalized Mobile Health Intervention Using Artificial Intelligence (the WARIFA App) Versus a Nonpersonalized Intervention on User-Defined Objectives, Healthy Lifestyles, and Management of Type 1 Diabetes (T1D): Protocol for a Randomized Controlled TrialCarmelo Betancort Acosta, Garlene Zamora Zamorano, María Luisa Álvarez Malé, et al.
Gigascience|February 15, 2022
Fully resolved assembly of Cryptosporidium parvumVipin K Menon, Pablo C Okhuysen, Cynthia L Chappell, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
BMC Biology|November 18, 2017
Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus)Peter A Larsen, R Alan Harris, Yue Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
Circulation. Cardiovascular Genetics|June 22, 2014
Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing StudyChing-Ti Liu, Kristin L Young, Jennifer A Brody, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
BMC Microbiology|July 10, 2012
Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomesXiang Qin, Jessica R Galloway-Peña, Jouko Sillanpaa, et al.
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