Search Results - "Kalinauskiene, Ruta"

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects by Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle

“…Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical…”
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations by Peron, Angela, D'Arco, Felice, Aldinger, Kimberly A, Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A, Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F, Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M, Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M, Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J, Earl, Dawn L, Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J, Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D, Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J, Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S, Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M, Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M, Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B A, Guillemot, Francois, Dobyns, William B, Viskochil, David, Dias, Cristina

“…An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of…”
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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders by Copeland, Harriet, Low, Karen J., Wynn, Sarah L., Ahmed, Ayesha, Arthur, Victoria, Balasubramanian, Meena, Bennett, Katya, Berg, Jonathan, Bertoli, Marta, Bryson, Lisa, Bucknall, Catrin, Campbell, Jamie, Chandler, Kate, Chauhan, Jaynee, Clarkson, Amy, Coles, Rachel, Conti, Hector, Costello, Philandra, Coupar, Tessa, Craig, Amy, Dean, John, Dillon, Amy, Dixit, Abhijit, Drew, Kathryn, Eason, Jacqueline, Forzano, Francesca, Foulds, Nicola, Gardham, Alice, Ghali, Neeti, Green, Andrew, Hanna, William, Harrison, Rachel, Hegarty, Mairead, Higgs, Jenny, Holder, Muriel, Irving, Rachel, Jain, Vani, Johnson, Katie, Jolley, Rachel, Jones, Wendy D., Jones, Gabriela, Joss, Shelagh, Kalinauskiene, Ruta, Kanani, Farah, Kavanagh, Karl, Khan, Mahmudur, Khan, Naz, Kivuva, Emma, Lahiri, Nayana, Lakhani, Neeta, Lampe, Anne, Lynch, Sally Ann, Mansour, Sahar, Marsden, Alice, Massey, Hannah, McKee, Shane, Mohammed, Shehla, Naik, Swati, Nesarajah, Mithushanaa, Newbury-Ecob, Ruth, Osborne, Fiona, Parker, Michael J., Patterson, Jenny, Pottinger, Caroline, Prapa, Matina, Prescott, Katrina, Quinn, Shauna, Radley, Jessica A., Robart, Sarah, Ross, Alison, Rosti, Giulia, Sansbury, Francis H., Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Shears, Debbie, Smithson, Sarah, Stewart, Helen, Suri, Mohnish, Tadros, Shereen, Theobald, Rachel, Thomas, Rhian, Tsoulaki, Olga, Vasudevan, Pradeep, Rodriguez, Maribel Verdesoto, Vittery, Emma, Whyte, Sinead, Woods, Emily, Wright, Thomas, Zocche, David, Firth, Helen V., Wright, Caroline F.

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A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects by Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle

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