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Search Results - Pao, Emily
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ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
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
,
Alkuraya, Fowzan S.
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Contractar, Isphana A. F.
,
Neil, Jennifer E.
,
Walsh, Christopher A.
,
Bellen, Hugo J.
,
Chao, Hsiao‐Tuan
,
Clark, Robin D.
,
Mirzaa, Ghayda M.
Published in
Annals of clinical and translational neurology
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
by
Pirozzi, Filomena
,
Berkseth, Matthew
,
Shear, Rylee
,
Gonzalez, Lorenzo
,
Timms, Andrew E
,
Sulc, Josef
,
Pao, Emily
,
Oyama, Nora
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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
,
Hauptman, Jason
,
Ojemann, Jeffrey
,
Kapur, Raj P
,
Mirzaa, Ghayda M
Published in
Brain (London, England : 1878)
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The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA -related megalencephaly-capillary malformation (MCAP) syndrome: a case report
by
Chen, Wei-Liang
,
Pao, Emily
,
Owens, James
,
Glass, Ian
,
Pritchard, Colin
,
Shirts, Brain H
,
Lockwood, Christina
,
Mirzaa, Ghayda M
Published in
Cold Spring Harbor molecular case studies
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