An Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia Secondary to Lamin B Receptor (LBR) Gene Mutations: Further Definition of the Phenotypic Heterogeneity o...

Por Sobreira, Nara, Modaff, Peggy, Steel, Gary, You, Jing, Nanda, Sonia, Hoover-Fong, Julie, Valle, David, Pauli, Richard M
Publicado no Am J Med Genet A (2014)

A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

Por Tluczek, Audrey, Zaleski, Christina, Stachiw-Hietpas, Dania, Modaff, Peggy, Adamski, Craig R., Nelson, Megan R., Reiser, Catherine A., Ghate, Sumedha, Josephson, Kevin D.
Publicado em 2010

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

Por Jurgens, Julie, Sobreira, Nara, Modaff, Peggy, Reiser, Catherine A., Seo, Soo Hyun, Seong, Moon-Woo, Park, Sung Sup, Kim, Ok Hwa, Cho, Tae-Joon, Pauli, Richard M.
Publicado no Hum Mutat (2015)

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Por Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang, Ling, Hua, Hetrick, Kurt N., Doheny, Kimberly F., Valle, David, Pauli, Richard M.
Publicado em 2014