Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy 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, Brewer, Carmen C., Riazuddin, Sheikh, Hufnagel, Robert B., Hoa, Michael, Zein, Wadih M., Dios, J. Karl, Friedman, Thomas B.

Get full text

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development by Woerden, Geeske M., Bos, Melanie, Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske

Get full text

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype by Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

Get full text

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes by Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

Get full text

Modulation of the activity of a polycomb-group response element in Drosophila by a mutation in the transcriptional activator woc by Noyes, Amanda, Stefaniuk, Catherine, Cheng, Yuzhong, Kennison, James A, Kassis, Judith A

Get full text

Tissue distribution and thyroid hormone effects on mRNA abundance for membrane transporters Mct8, Mct10, and organic anion-transporting polypeptides (Oatps) in a teleost fish by Muzzio, Amanda M., Noyes, Pamela D., Stapleton, Heather M., Lema, Sean C.

Get full text

Plyometric Training in Female Athletes by Timothy E. Hewett Amanda L. Stroupe Thomas A. Nance Frank R. Noyes

Get full text

Potential value of systematic reviews of qualitative evidence in informing user-centered health and social care: findings from a descriptive overview by Dalton, Jane, Booth, Andrew, Noyes, Jane, Sowden, Amanda J

Get full text

Expanding the evidence for cross-sector collaboration in implementation science: creating a collaborative, cross-sector, interagency, multidisciplinary team to serve patients exper... by Anderson, Amanda Joy, Noyes, Katia, Hewner, Sharon

Get full text

Plyometric Training in Female Athletes: Decreased Impact Forces and Increased Hamstring Torques by Hewett, Timothy E., Stroupe, Amanda L., Nance, Thomas A., Noyes, Frank R.

Get full text

PrPC knockdown by liposome-siRNA-peptide complexes (LSPCs) prolongs survival and normal behavior of prion-infected mice immunotolerant to treatment by Bender, Heather, Noyes, Noelle, Annis, Jessica L, Hitpas, Amanda, Mollnow, Luke, Croak, Kendra, Kane, Sarah, Wagner, Kaitlyn, Dow, Steven, Zabel, Mark

Get full text

Synthesizing evidence on complex interventions: how meta-analytical, qualitative, and mixed-method approaches can contribute by Petticrew, Mark, Rehfuess, Eva, Noyes, Jane, Higgins, Julian P.T, Mayhew, Alain, Pantoja, Tomas, Shemilt, Ian, Sowden, Amanda

Get full text

A research and development agenda for systematic reviews that ask complex questions about complex interventions by Noyes, Jane, Gough, David, Lewin, Simon, Mayhew, Alain, Michie, Susan, Pantoja, Tomas, Petticrew, Mark, Pottie, Kevin, Rehfuess, Eva, Shemilt, Ian, Shepperd, Sasha, Sowden, Amanda, Tugwell, Peter, Welch, Vivian

Get full text

PrP.sup.C knockdown by liposome-siRNA-peptide complexes by Bender, Heather, Noyes, Noelle, Annis, Jessica L, Hitpas, Amanda, Mollnow, Luke, Croak, Kendra, Kane, Sarah, Wagner, Kaitlyn, Dow, Steven, Zabel, Mark

Get full text

PrP.sup.C knockdown by liposome-siRNA-peptide complexes prolongs survival and normal behavior of prion-infected mice immunotolerant to treatment by Bender, Heather, Noyes, Noelle, Annis, Jessica L, Hitpas, Amanda, Mollnow, Luke, Croak, Kendra, Kane, Sarah, Wagner, Kaitlyn, Dow, Steven, Zabel, Mark

Get full text

Development of a Center for Personalized Cancer Care at a Regional Cancer Center: Feasibility Trial of an Institutional Tumor Sequencing Advisory Board by Lane, Brian R, Bissonnette, Jeffrey, Waldherr, Tracy, Ritz-Holland, Deborah, Chesla, Dave, Cottingham, Sandra L, Alberta, Sheryl, Liu, Cong, Thompson, Amanda B, Graveel, Carrie, MacKeigan, Jeffrey P, Noyes, Sabrina L, Smith, Judy, Lakhani, Nehal, Steensma, Matthew R

Get full text

A blind re-analysis of the Iowa family study of obsessive-compulsive disorder by Black, Donald W, Stumpf, Amanda, McCormick, Brett, Allen, Jeff, Blum, Nancee, Noyes, Russell

Get full text

Synthesizing evidence on complex interventions: how meta-analytical, qualitative, and mixed-method approaches can contribute : Considering Complexity in Systematic Reviews of Inter... by PETTICREW, Mark, REHFUESS, Eva, NOYES, Jane, HIGGINS, Julian P. T, MAYHEW, Alain, PANTOJA, Tomas, SHEMILT, Ian, SOWDEN, Amanda

Get full text

A research and development agenda for systematic reviews that ask complex questions about complex interventions : Considering Complexity in Systematic Reviews of Interventions by NOYES, Jane, GOUGH, David, SHEPPERD, Sasha, SOWDEN, Amanda, TUGWELL, Peter, WELCH, Vivian, LEWIN, Simon, MAYHEW, Alain, MICHIE, Susan, PANTOJA, Tomas, PETTICREW, Mark, POTTIE, Kevin, REHFUESS, Eva, SHEMILT, Ian

Get full text

Early anti-pseudomonal acquisition in young patients with cystic fibrosis: Rationale and design of the EPIC clinical trial and observational study by Treggiari, Miriam M, Rosenfeld, Margaret, Mayer-Hamblett, Nicole, Retsch-Bogart, George, Gibson, Ronald L, Williams, Judy, Emerson, Julia, Kronmal, Richard A, Ramsey, Bonnie W

Get full text