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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations by Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julian A. Martinez-Agosto, Richard Sherwood, Joel Krier, Isaac S. Kohane, Undiagnosed Diseases Network, Shamil R. Sunyaev
Published 2025-08-01Get full text
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Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features by Peter Novak, MD, PhD, David M. Systrom, MD, Sadie P. Marciano, PA-C, Alexandra Witte, PA-C, Arabella Warren, MD, PhD, Donna Felsenstein, MD, Matthew P. Giannetti, MD, Matthew J. Hamilton, MD, Jennifer Nicoloro-SantaBarbara, PhD, Mariana Castells, MD, Khosro Farhad, MD, David M. Pilgrim, MD, William J. Mullally, MD, Mark C. Fishman, MD, Jeff M. Milunsky, MD, Aubrey Milunsky, MD, Joel Krier, MD
Published 2025-12-01Get full text
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