OpenURL Connection Search

Select item for more details and to access through your institution.

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Published in:
2022
By:
- Pirozzi, Filomena;
- Berkseth, Matthew;
- Shear, Rylee;
- Gonzalez, Lorenzo;
- Timms, Andrew E;
- Sulc, Josef;
- Pao, Emily;
- Oyama, Nora;
- Forzano, Francesca;
- Conti, Valerio;
- Guerrini, Renzo;
- Doherty, Emily S;
- Saitta, Sulagna C;
- Lockwood, Christina M;
- Pritchard, Colin C;
- Dobyns, William B;
- Novotny, Edward;
- Wright, Jason N N;
- Saneto, Russell P;
- Friedman, Seth
Publication type:
journal article
Acute kidney injury and chronic kidney disease in umbilical cord blood transplant recipients.
Published in:
Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1186503
By:
- Lopedote, Paolo;
- Xue, Elisabetta;
- Chotivatanapong, Julie;
- Pao, Emily C.;
- Wychera, Chiara;
- Dahlberg, Ann E.;
- Thur, Laurel;
- Roberts, Laura;
- Baker, Kelsey;
- Gooley, Ted A.;
- Hingorani, Sangeeta;
- Milano, Filippo
Publication type:
Article
ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
By:
- Thomas, Ajay X.;
- Link, Nichole;
- Robak, Laurie A.;
- Demmler‐Harrison, Gail;
- Pao, Emily C.;
- Squire, Audrey E.;
- Michels, Savannah;
- Cohen, Julie S.;
- Comi, Anne;
- Prontera, Paolo;
- Verrotti di Pianella, Alberto;
- Di Cara, Giuseppe;
- Garavelli, Livia;
- Caraffi, Stefano Giuseppe;
- Fusco, Carlo;
- Zuntini, Roberta;
- Parks, Kendall C.;
- Sherr, Elliott H.;
- Hashem, Mais O.;
- Maddirevula, Sateesh
Publication type:
Article
The utility of cerebrospinal fluid-- derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006188
By:
- Wei-Liang Chen;
- Emily Pao;
- Owens, James;
- Glass, Ian;
- Pritchard, Colin;
- Shirts, Brain H.;
- Lockwood, Christina;
- Mirzaa, Ghayda M.
Publication type:
Article

Found: 4

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Acute kidney injury and chronic kidney disease in umbilical cord blood transplant recipients.

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.

The utility of cerebrospinal fluid-- derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.