Hasil Pencarian - Elijah Kravets
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P639: Large-scale genome reanalysis of 159 individuals affected by undiagnosed genetic diseases from the Stanford Center for Undiagnosed Diseases oleh Hector Mendez, Devon Bonner, Chloe Reuter, Jennefer Kohler, Shruti Marwaha, Laurens van de Wiel, Elijah Kravets, Charlotte Ostrow, Raquel Alvarez, Sara Emami, Meghan Halley, Holly Tabor, Suha Bachir, Jonathan Bernstein, Matthew Wheeler
Diterbitkan 2024-01-01
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Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen... oleh Linda Z. Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C. Mefford, Katie Golden‐Grant, Kristina Tarczy‐Hornoch, Lauren C. Briere, David A. Sweetser, Melissa A. Walker, Elijah Kravets, David A. Stevenson, Georgette Bruenner, Jessica Sebastian, Julia Knapo, Jill A. Rosenfeld, Paul C. Marcogliese, Undiagnosed Diseases Network, Michael F. Wangler
Diterbitkan 2021-01-01
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