A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model von Tluczek, Audrey, Zaleski, Christina, Stachiw-Hietpas, Dania, Modaff, Peggy, Adamski, Craig R., Nelson, Megan R., Reiser, Catherine A., Ghate, Sumedha, Josephson, Kevin D.

Volltext

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients von Ng, Bobby G., Underhill, Hunter R., Palm, Lars, Bengtson, Per, Rozet, Jean-Michel, Gerber, Sylvie, Munnich, Arnold, Zanlonghi, Xavier, Stevens, Cathy A., Kircher, Martin, Nickerson, Deborah A., Buckingham, Kati J., Josephson, Kevin D., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H., Eklund, Erik A.

Volltext

Sex differences in tracking performance in patients with Parkinson's disease von Carey, James R., Deskin, Kim A., Josephson, Kevin T., Wichmann, Rosemary L.

Volltext

Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype von Williams, Marc S., Josephson, Kevin D.

Volltext

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 von Robin, Nathaniel H, Feldman, George J, Aronson, Adam L, Mitchell, Heather F, Weksberg, Rosanna, Leonard, Claire O, Burton, Barbara K, Josephson, Kevin D, Laxová, Renata, Aleck, Kyrieckos A, Allanson, Judith E, Guion-Almeida, Maria Leine, Martin, Rick A, Leichtman, Lawrence G, Price, R. Arlen, Opitz, John M, Muenke, Maximilian

Volltext

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome? von Larson, Amy R.U., Josephson, Kevin D., Pauli, Richard M., Opitz, John M., Williams, Marc S.

Volltext

Suspected gonadal mosaicism for isochromosomes 18p and 18q unsubstantiated by fluorescence in situ hybridization analysis of sperm von Williams, Marc S., Josephson, Kevin D., Gursoy, Nurcan, Jackson-Cook, Colleen

Volltext

Smith-Lemli-Opitz syndrome: Thirty-year follow-up of "S" of "RSH" syndrome von Pauli, Richard M., Williams, Marc S., Josephson, Kevin D., Tint, G. S.

Volltext

Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: A new case and expansion of the phenotype von Williams, Marc S., Josephson, Kevin D.

Volltext

Aortic root dilation in apparent Lujan-Fryns syndrome von Wittine, Lara M., Josephson, Kevin D., Williams, Marc S.

Volltext

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family von Aswegan, Andrew L., Josephson, Kevin D., Mowbray, Rodney, Pauli, Richard M., Spritz, Richard A., Williams, Marc S.

Volltext

Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome von Williams, Marc S., Rooney, Brenda L., Williams, Janet, Josephson, Kevin, Pauli, Richard

Volltext

Clinical Metagenomic Sequencing for Diagnosis of Meningitis and Encephalitis von Wilson, Michael R, Sample, Hannah A, Zorn, Kelsey C, Arevalo, Shaun, Yu, Guixia, Neuhaus, John, Federman, Scot, Stryke, Doug, Briggs, Benjamin, Langelier, Charles, Berger, Amy, Douglas, Vanja, Josephson, S. Andrew, Chow, Felicia C, Fulton, Brent D, DeRisi, Joseph L, Gelfand, Jeffrey M, Naccache, Samia N, Bender, Jeffrey, Dien Bard, Jennifer, Murkey, Jamie, Carlson, Magrit, Vespa, Paul M, Vijayan, Tara, Allyn, Paul R, Campeau, Shelley, Humphries, Romney M, Klausner, Jeffrey D, Ganzon, Czarina D, Memar, Fatemeh, Ocampo, Nicolle A, Zimmermann, Lara L, Cohen, Stuart H, Polage, Christopher R, DeBiasi, Roberta L, Haller, Barbara, Dallas, Ronald, Maron, Gabriela, Hayden, Randall, Messacar, Kevin, Dominguez, Samuel R, Miller, Steve, Chiu, Charles Y

Volltext

The Houston Consensus Conference on Testing for Helicobacter pylori Infection von Josephson, Matthew, Skole, Kevin

Volltext

Age-related inflammation triggers skeletal stem/progenitor cell dysfunction von Josephson, Anne Marie, Bradaschia-Correa, Vivian, Lee, Sooyeon, Leclerc, Kevin, Patel, Karan S., Lopez, Emma Muinos, Litwa, Hannah P., Neibart, Shane S., Kadiyala, Manasa, Wong, Madeleine Z., Mizrahi, Matthew M., Yim, Nury L., Ramme, Austin J., Egol, Kenneth A., Leucht, Philipp

Volltext

Patient‐reported outcome measures for life participation in kidney transplantation: A systematic review von Ju, Angela, Chow, Bi Yang, Ralph, Angelique F., Howell, Martin, Josephson, Michelle A., Ahn, Curie, Butt, Zeeshan, Dobbels, Fabienne, Fowler, Kevin, Jowsey‐Gregoire, Sheila, Jha, Vivekanand, Locke, Jayme E., Tan, Jane C., Taylor, Quinetta, Rutherford, Claudia, Craig, Jonathan C., Tong, Allison

Volltext

De novo design of potent and resilient hACE2 decoys to neutralize SARS-CoV-2 von Linsky, Thomas W, Vergara, Renan, Codina, Nuria, Nelson, Jorgen W, Walker, Matthew J, Su, Wen, Barnes, Christopher O, Hsiang, Tien-Ying, Esser-Nobis, Katharina, Yu, Kevin, Reneer, Z Beau, Hou, Yixuan J, Priya, Tanu, Mitsumoto, Masaya, Pong, Avery, Lau, Uland Y, Mason, Marsha L, Chen, Jerry, Chen, Alex, Berrocal, Tania, Peng, Hong, Clairmont, Nicole S, Castellanos, Javier, Lin, Yu-Ru, Josephson-Day, Anna, Baric, Ralph S, Fuller, Deborah H, Walkey, Carl D, Ross, Ted M, Swanson, Ryan, Bjorkman, Pamela J, Gale, Jr, Michael, Blancas-Mejia, Luis M, Yen, Hui-Ling, Silva, Daniel-Adriano

Volltext

ABO blood group and COVID‐19: a review on behalf of the ISBT COVID‐19 Working Group von Goel, Ruchika, Bloch, Evan M., Pirenne, France, Al‐Riyami, Arwa Z., Crowe, Elizabeth, Dau, Laetitia, Land, Kevin, Townsend, Mary, Jecko, Thachil, Rahimi‐Levene, Naomi, Patidar, Gopal, Josephson, Cassandra D., Arora, Satyam, Vermeulen, Marion, Vrielink, Hans, Montemayor, Celina, Oreh, Adaeze, Hindawi, Salwa, Berg, Karin, Serrano, Katherine, So‐Osman, Cynthia, Wood, Erica, Devine, Dana V., Spitalnik, Steven L.

Volltext

Association between antiseizure medications and quality of life in epilepsy: A mediation analysis von Wang, Meng, Perera, Kevin, Josephson, Colin B., Lamidi, Mubasiru, Lawal, Oluwaseyi A., Awosoga, Oluwagbohunmi, Roach, Pamela, Patten, Scott B., Wiebe, Samuel, Sajobi, Tolulope T.

Volltext

The Importance of Transplant Nephrology to a Successful Kidney Transplant Program von Moe, Sharon M, Brennan, Daniel C, Doshi, Mona D, Gaston, Robert S, Gurley, Susan B, Mujtaba, Muhammad A, Schmidt, Rebecca J, Segal, Mark S, Tucker, J Kevin, Wiseman, Alexander C, Josephson, Michelle A

Volltext