検索結果 - Hendon, Laura G.
- 検索結果 1 - 7 結果 / 7
-
1
7q11.23 Duplication Syndrome: Physical Characteristics and Natural History 著者: Morris, Colleen A., Mervis, Carolyn B., Paciorkowski, Alex P., Abdul-Rahman, Omar, Dugan, Sarah L., Rope, Alan F., Bader, Patricia, Hendon, Laura G., Velleman, Shelley L., Klein-Tasman, Bonita P., Osborne, Lucy R.
出版事項 2015テキスト -
2
Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency 著者: Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
出版事項 2013テキスト -
3
Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium 著者: Suckiel, Sabrina A., O’Daniel, Julianne M., Donohue, Katherine E., Gallagher, Katie M., Gilmore, Marian J., Hendon, Laura G., Joseph, Galen, Lianoglou, Billie R., Mathews, Jennifer M., Norton, Mary E., Odgis, Jacqueline A., Poss, Alexis F., Rego, Shannon, Scollon, Sarah, Yip, Tiffany, Amendola, Laura M.
出版事項 2021テキスト -
4
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 著者: Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola
出版事項 2022テキスト -
5
The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism 著者: Vandeweyer, Geert, Helsmoortel, Céline, Van Dijck, Anke, Silfhout, Anneke T. Vulto-van, Coe, Bradley P., Bernier, Raphael, Gerdts, Jennifer, Rooms, Liesbeth, Bakshi, Madhura, van den Ende, Jenneke, Wilson, Meredith, Nordgren, Ann, Hendon, Laura G., Abdulrahman, Omar A., Romano, Corrado, de Vries, Bert B.A., Kleefstra, Tjitske, Eichler, Evan E., Van der Aa, Nathalie, Kooy, R. Frank
出版事項 2014テキスト -
6
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases 著者: Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana
出版事項 2017テキスト -
7
Genome sequencing as a first-line diagnostic test for hospitalized infants 著者: Bowling, Kevin M., Thompson, Michelle L., Finnila, Candice R., Hiatt, Susan M., Latner, Donald R., Amaral, Michelle D., Lawlor, James M.J., East, Kelly M., Cochran, Meagan E., Greve, Veronica, Kelley, Whitley V., Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C.E., Kandasamy, Jegen, Carlo, Wally, Brothers, Kyle B., Kirmse, Brian M., Savich, Renate, Superneau, Duane, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.
出版事項 2022テキスト