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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
By:
- Harel, Tamar;
- Spicher, Camille;
- Scheer, Elisabeth;
- Buchan, Jillian G;
- Cech, Jennifer;
- Folland, Chiara;
- Frey, Tanja;
- Holtz, Alexander M;
- Innes, A Micheil;
- Keren, Boris;
- Macken, William L;
- Marcelis, Carlo;
- Otten, Catherine E;
- Paolucci, Sarah A;
- Petit, Florence;
- Pfundt, Rolph;
- Pitceathly, Robert D S;
- Rauch, Anita;
- Ravenscroft, Gianina;
- Sanchev, Rani
Publication type:
Article
Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 100, doi. 10.1002/ajmg.a.63405
By:
- Amalnath, S. Deepak;
- Jothivanan;
- Oshima, Junko;
- Buchan, Jillian G.;
- Paolucci, Sarah
Publication type:
Article
Characterization of Chicken Thrombocyte Responses to Toll-Like Receptor Ligands.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043381
By:
- St. Paul, Michael;
- Paolucci, Sarah;
- Barjesteh, Neda;
- Wood, R. Darren;
- Schat, Karel A.;
- Sharif, Shayan;
- Huaijun Zhou
Publication type:
Article
Toll-like receptor ligands induce the expression of interferon-gamma and interleukin-17 in chicken CD4+ T cells.
Published in:
BMC Research Notes, 2012, v. 5, n. 1, p. 616, doi. 10.1186/1756-0500-5-616
By:
- St. Paul, Michael;
- Barjesteh, Neda;
- Paolucci, Sarah;
- Pei, Yanlong;
- Sharif, Shayan
Publication type:
Article
Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing.
Published in:
Clinical Chemistry, 2022, v. 68, n. 5, p. 627, doi. 10.1093/clinchem/hvac040
By:
- Paolucci, Sarah A.;
- Ma, Kimberly K.;
- Paulson, Vera;
- Gadi, Vijayakrishna K.;
- Lockwood, Christina M.
Publication type:
Article

Found: 5

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant.

Characterization of Chicken Thrombocyte Responses to Toll-Like Receptor Ligands.

Toll-like receptor ligands induce the expression of interferon-gamma and interleukin-17 in chicken CD4+ T cells.

Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing.