Zoekresultaten - Kaylor, Julie
- Toon 1 - 5 resultaten van 5
-
1
CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein door Slavotinek, Anne, Kaylor, Julie, Pierce, Heather, Cahr, Michelle, DeWard, Stephanie J., Schneidman-Duhovny, Dina, Alsadah, Adnan, Salem, Fadi, Schmajuk, Gabriela, Mehta, Lakshmi
Gepubliceerd in 2015Text -
2
SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases door Zarate, Yuri A., Bhoj, Elizabeth, Kaylor, Julie, Li, Dong, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Phadke, Shubha, Escobar, Luis, Irani, Afifa, Hakonarson, Hakon, Schrier Vergano, Samantha A.
Gepubliceerd in 2016Text -
3
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation door Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T., Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A., McConkie-Rosell, Allyn, Reinholdt, Laura G., Huang, Taosheng
Gepubliceerd in 2018Text -
4
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features door Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.
Gepubliceerd in 2016Text -
5
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy door Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng
Gepubliceerd in 2017Text