Dysmorphology in the Era of Genomic Diagnosis

por Hurst, Anna C. E., Robin, Nathaniel H.
Publicado 2020

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

por Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.
Publicado 2018

Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS)

por Morris, Robert E, Parma, Edward Scott, Robin, Nathaniel H, Sapp, Mathew R, Oltmanns, Matthew H, West, Matthew R, Fletcher, Donald C, Schuchard, Ronald A, Kuhn, Ferenc
Publicado 2021

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

por Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Publicado 2014

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

por Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N., Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S., Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K., Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M., Seitz, Barbara, Robin, Nathaniel H., Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F. Lucy, Gilmore, Kelly, Powell, Bradford C., Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T., Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L., Davis, Erica E., Burdine, Rebecca, Bhoj, Elizabeth
Publicado 2023