Søgeresultater - Rosenbaum, Kenneth

Holoprosencephaly due to Numeric Chromosome Abnormalities af Solomon, Benjamin D., Rosenbaum, Kenneth N., Meck, Jeanne M., Muenke, Maximilian

Få fuldtekst Få fuldtekst Få fuldtekst

Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister–Killian Syndrome and His Unaffected Twin af Samango-Sprouse, Carole A., Hamzik, Mary P., Rosenbaum, Kenneth, Khaksari, Kosar, Mitchell, Francie, Kommareddi, Ritika, Brooks, Michaela R., Tipton, Elizabeth, Sadeghin, Teresa, Gropman, Andrea L.

Få fuldtekst Få fuldtekst Få fuldtekst

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features af Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann

Få fuldtekst Få fuldtekst Få fuldtekst

Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen af Rosenberg, Marjorie J., Vaske, David, Killoran, Christina E., Ning, Yi, Wargowski, David, Hudgins, Louanne, Tifft, Cynthia J., Meck, Jeanne, Blancato, Jan K., Rosenbaum, Kenneth, Pauli, Richard M., Weber, James, Biesecker, Leslie G.

Få fuldtekst Få fuldtekst

Handheld Optical Coherence Tomography During Sedation in Young Children With Optic Pathway Gliomas af Avery, Robert A., Hwang, Eugene I., Ishikawa, Hiroshi, Acosta, Maria T., Hutcheson, Kelly A., Santos, Domiciano, Zand, Dina J., Kilburn, Lindsay B., Rosenbaum, Kenneth N., Rood, Brian R., Schuman, Joel S., Packer, Roger J.

Få fuldtekst Få fuldtekst Få fuldtekst

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta af Cabral, Wayne A, Chang, Weizhong, Barnes, Aileen M, Weis, MaryAnn, Scott, Melissa A, Leikin, Sergey, Makareeva, Elena, Kuznetsova, Natalia V, Rosenbaum, Kenneth N, Tifft, Cynthia J, Bulas, Dorothy I, Kozma, Chahira, Smith, Peter A, Eyre, David R, Marini, Joan C

Få fuldtekst Få fuldtekst Få fuldtekst

Further clinical and molecular delineation of the 15q24 microdeletion syndrome af Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E

Få fuldtekst Få fuldtekst Få fuldtekst

Missense variant contribution to USP9X-female syndrome af Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, Gecz, Jozef

Få fuldtekst Få fuldtekst Få fuldtekst

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals af Solomon, Benjamin D., Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J., Delgado, Mauricio R., Rosenbaum, Kenneth, Dubourg, Christèle, David, Véronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J., Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, Mcpherson, Elizabeth, Hennekam, Raoul Cm, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W., Thomas, Ronald L., Kenwrick, Sue, Keaton, Amelia, Balog, Joan Z., Hadley, Donald, Zhou, Nan, Long, Robert, Velez, Jorge I., Pineda-Alvarez, Daniel E., Odent, Sylvie, Roessler, Erich, Muenke, Maximilian

Få fuldtekst Få fuldtekst Få fuldtekst

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features af Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia, Rosenbaum, Kenneth, Vallee, Stephanie, Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.

Få fuldtekst Få fuldtekst Få fuldtekst

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations af Johnston, Jennifer J., Sapp, Julie C., Turner, Joyce T., Amor, David, Aftimos, Salim, Aleck, Kyrieckos A., Bocian, Maureen, Bodurtha, Joann N., Cox, Gerald F., Curry, Cynthia J., Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M., Hedera, Peter, Hennekam, Raoul C.M., Hersh, Joseph H., Hopkin, Robert J., Kayserili, Hülya, Kidd, Alexa M.J., Kimonis, Virginia, Lin, Angela E., Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H., Rope, Alan F., Rosenbaum, Kenneth N., Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J., Steiner, Bernhard, Stephan, Mark J., Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I., Vasudevan, Pradeep C., Zabel, Bernhard, Zunich, Janice, Black, Graeme C.M., Biesecker, Leslie G.

Få fuldtekst Få fuldtekst Få fuldtekst

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 af Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

Få fuldtekst Få fuldtekst Få fuldtekst