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Inclusion of pregnant and breastfeeding women in research – efforts and initiatives.
Published in:
British Journal of Clinical Pharmacology, 2018, v. 84, n. 2, p. 215, doi. 10.1111/bcp.13438
By:
- Illamola, Sílvia M.;
- Bucci‐Rechtweg, Christina;
- Costantine, Maged M.;
- Tsilou, Ekaterini;
- Sherwin, Catherine M.;
- Zajicek, Anne
Publication type:
Article
Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Published in:
Clinical Genetics, 2023, v. 103, n. 6, p. 699, doi. 10.1111/cge.14312
By:
- Faridi, Rabia;
- Yousaf, Rizwan;
- Gu, Shoujun;
- Inagaki, Sayaka;
- Turriff, Amy E.;
- Pelstring, Keith;
- Guan, Bin;
- Naik, Amelia;
- Griffith, Andrew J.;
- Adadey, Samuel Mawuli;
- Aboagye, Elvis Twumasi;
- Awandare, Gordon A.;
- Morell, Robert J.;
- Tsilou, Ekaterini;
- Noyes, Amanda G.;
- Sulmonte, Laura A. G.;
- Wonkam, Ambroise;
- Schrauwen, Isabelle;
- Leal, Suzanne M.;
- Azaiez, Hela
Publication type:
Article
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868
By:
- Wafa, Talah T.;
- Faridi, Rabia;
- King, Kelly A.;
- Zalewski, Christopher;
- Yousaf, Rizwan;
- Schultz, Julie M.;
- Morell, Robert J.;
- Muskett, Julie;
- Turriff, Amy;
- Tsilou, Ekaterini;
- Griffith, Andrew J.;
- Friedman, Thomas B.;
- Zein, Wadih M.;
- Brewer, Carmen C.
Publication type:
Article
Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky-Pudlak Syndrome Patients of Hispanic Descent.
Published in:
Journal of Investigative Dermatology, 2011, v. 131, n. 12, p. 2394, doi. 10.1038/jid.2011.228
By:
- Carmona-Rivera, Carmelo;
- Golas, Gretchen;
- Hess, Richard A;
- Cardillo, Nicholas D;
- Martin, Elijah H;
- O'Brien, Kevin;
- Tsilou, Ekaterini;
- Gochuico, Bernadette R;
- White, James G;
- Huizing, Marjan;
- Gahl, William A
Publication type:
Article
Dyskeratosis congenita: The first NIH clinical research workshop.
Published in:
Pediatric Blood & Cancer, 2009, v. 53, n. 3, p. 520, doi. 10.1002/pbc.22061
By:
- Savage, Sharon A.;
- Dokal, Inderjeet;
- Armanios, Mary;
- Aubert, Geraldine;
- Cowen, Edward W.;
- Domingo, Demetrio L.;
- Giri, Neelam;
- Greene, Mark H.;
- Orchard, Paul J.;
- Tolar, Jakub;
- Tsilou, Ekaterini;
- Van Waes, Carter;
- Wong, Judy M.Y.;
- Young, Neal S.;
- Alter, Blanche P.
Publication type:
Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Published in:
Human Mutation, 2008, v. 29, n. 4, p. 502, doi. 10.1002/humu.20677
By:
- Riazuddin, Saima;
- Nazli, Sabiha;
- Ahmed, Zubair M.;
- Yang, Yi;
- Zulfiqar, Fareeha;
- Shaikh, Rehan S.;
- Zafar, Ahmed U.;
- Khan, Shaheen N.;
- Sabar, Farooq;
- Javid, Fouzia T.;
- Wilcox, Edward R.;
- Tsilou, Ekaterini;
- Boger, Erich T.;
- Sellers, James R.;
- Belyantseva, Inna A.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.
Publication type:
Article

Found: 6

Inclusion of pregnant and breastfeeding women in research – efforts and initiatives.

Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.

Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky-Pudlak Syndrome Patients of Hispanic Descent.

Dyskeratosis congenita: The first NIH clinical research workshop.

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.