Tetrasomy 13q Mosaicism Associated With Phylloid Hypomelanosis and Precocious Puberty

av Dhar, Shweta U., Robbins-Furman, Patricia, Levy, Moise L., Patel, Ankita, Scaglia, Fernando
Publicerad 2009

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked Oculo-Facio-Cardio-Dental syndrome in a girl

av Jiang, Yong-hui, Fang, Ping, Adesina, Adekunle M., Furman, Patricia, Johnston, Jennifer J., Biesecker, Leslie G., Brown, Chester W.
Publicerad 2009

Cover

av Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
I publikationen Mol Genet Genomic Med (2021)

Sickle cell disease in Grenada: Quality of life and barriers to care

av Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
I publikationen Mol Genet Genomic Med (2020)

Cardiovascular findings in duplication 17p11.2 syndrome

av Jefferies, John L., Pignatelli, Ricardo H., Martinez, Hugo R., Robbins-Furman, Patricia J., Liu, Pengfei, Gu, Wenli, Lupski, James R., Potocki, Lorraine
Publicerad 2011

Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

av Soler-Alfonso, Claudia, Motil, Kathleen J., Turk, Catherine L., Robbins-Furman, Patricia, Friedman, Ellen M., Zhang, Feng, Lupski, James R., Fraley, J. Kennard, Potocki, Lorraine
Publicerad 2010

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

av Zhang, Feng, Potocki, Lorraine, Sampson, Jacinda B., Liu, Pengfei, Sanchez-Valle, Amarilis, Robbins-Furman, Patricia, Navarro, Alicia Delicado, Wheeler, Patricia G., Spence, J. Edward, Brasington, Campbell K., Withers, Marjorie A., Lupski, James R.
Publicerad 2010

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

av Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.
Publicerad 2007