Hasil Pencarian - Eric Vilain
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Sex steroid hormone modulation of neural stem cells: a critical review oleh Matthew S. Bramble, Neerja Vashist, Eric Vilain
Diterbitkan 2019-05-01
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Benchmarking long-read genome sequence alignment tools for human genomics applications oleh Jonathan LoTempio, Emmanuele Delot, Eric Vilain
Diterbitkan 2023-12-01
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nanotatoR: a tool for enhanced annotation of genomic structural variants oleh Surajit Bhattacharya, Hayk Barseghyan, Emmanuèle C. Délot, Eric Vilain
Diterbitkan 2021-01-01
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Parental Reports of Stigma Associated with Child’s Disorder of Sex Development oleh Aimee M. Rolston, Melissa Gardner, Eric Vilain, David E. Sandberg
Diterbitkan 2015-01-01
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Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development oleh Abhinav Parivesh, Emmanuèle Délot, Alejandra Reyes, Janelle Ryan, Surajit Bhattacharya, Vincent Harley, Eric Vilain
Diterbitkan 2024-03-01
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Epigenetic predictor of age. oleh Sven Bocklandt, Wen Lin, Mary E Sehl, Francisco J Sánchez, Janet S Sinsheimer, Steve Horvath, Eric Vilain
Diterbitkan 2011-01-01
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Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic oleh Kristen Kocher, Surajit Bhattacharya, Nickie Niforatos-Andescavage, Miguel Almalvez, Diedtra Henderson, Eric Vilain, Catherine Limperopoulos, Emmanuèle C. Délot
Diterbitkan 2023-10-01
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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis oleh Hayk Barseghyan, Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson, Eric Vilain
Diterbitkan 2017-10-01
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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey oleh Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi
Diterbitkan 2021-07-01
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Acceleration of age-associated methylation patterns in HIV-1-infected adults. oleh Tammy M Rickabaugh, Ruth M Baxter, Mary Sehl, Janet S Sinsheimer, Patricia M Hultin, Lance E Hultin, Austin Quach, Otoniel Martínez-Maza, Steve Horvath, Eric Vilain, Beth D Jamieson
Diterbitkan 2015-01-01
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Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings oleh Sulgi Lee, Sulgi Lee, Madhuri Kambhampati, M. Isabel Almira-Suarez, Cheng-Ying Ho, Eshini Panditharatna, Seth I. Berger, Seth I. Berger, Seth I. Berger, Seth I. Berger, Joyce Turner, Joyce Turner, David Van Mater, Lindsay Kilburn, Lindsay Kilburn, Roger J. Packer, John S. Myseros, Eric Vilain, Eric Vilain, Javad Nazarian, Javad Nazarian, Javad Nazarian, Javad Nazarian, Javad Nazarian, Miriam Bornhorst, Miriam Bornhorst, Miriam Bornhorst
Diterbitkan 2020-01-01
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Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States oleh Phyllis W. Speiser, Reeti Chawla, Ming Chen, Alicia Diaz-Thomas, Courtney Finlayson, Meilan M. Rutter, David E. Sandberg, Kim Shimy, Rashida Talib, Jane Cerise, Eric Vilain, Emmanuèle C. Délot
Diterbitkan 2020-05-01
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Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model oleh Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth Baxter, Stanley F. Nelson, Emmanuèle C. Délot, Vincent Harley, Eric Vilain
Diterbitkan 2018-01-01
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P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia* oleh Emmanuèle Délot, Jean Monlong, Xiao Chen, Hayk Barseghyan, Surajit Bhattacharya, Jonathan LoTempio, Brandy McNulty, Shloka Negi, Sara O'Rourke, Alexander Robertson, William Rowell, Seth Berger, Karen Miga, Benedict Paten, Jonah Cool, Eric Vilain
Diterbitkan 2024-01-01
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Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. oleh Stefan White, Thomas Ohnesorg, Amanda Notini, Kelly Roeszler, Jacqueline Hewitt, Hinda Daggag, Craig Smith, Erin Turbitt, Sonja Gustin, Jocelyn van den Bergen, Denise Miles, Patrick Western, Valerie Arboleda, Valerie Schumacher, Lavinia Gordon, Katrina Bell, Henrik Bengtsson, Terry Speed, John Hutson, Garry Warne, Vincent Harley, Peter Koopman, Eric Vilain, Andrew Sinclair
Diterbitkan 2011-03-01
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