Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome von Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.

Volltext

Validation of an ampicillin selection protocol to enrich for mutants of Listeria monocytogenes unable to replicate on fresh produce von Jayeola, Victor, Parsons, C, Gorski, L, Kathariou, S

Volltext

Mutations in FOXC2 ( MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome von Fang, Jianming, Dagenais, Susan L., Erickson, Robert P., Arlt, Martin F., Glynn, Michael W., Gorski, Jerome L., Seaver, Laurie H., Glover, Thomas W.

Volltext

Rapid Identification and Classification of Listeria spp. and Serotype Assignment of Listeria monocytogenes Using Fourier Transform-Infrared Spectroscopy and Artificial Neural Netwo... von Romanolo, K F, Gorski, L, Wang, S, Lauzon, C R

Volltext

Endoscopic Islet Autotransplantation Into Gastric Submucosa—1000-Day Follow-up of Patients von Wszola, M., Berman, A., Gorski, L., Ostaszewska, A., Serwanska-Swietek, M., Krajewska, M., Lipinska, A., Chmura, A., Kwiatkowski, A.

Volltext

Islets Allotransplantation Into Gastric Submucosa in a Patient with Portal Hypertension: 4-year Follow-up von Wszola, M., Berman, A., Ostaszewska, A., Gorski, L., Serwanska-Swietek, M., Gozdowska, J., Bednarska, K., Krajewska, M., Lipinska, A., Chmura, A., Kwiatkowski, A.

Volltext

Prevalence of Salmonellae, Listeria monocytogenes, and Fecal Coliforms in Bulk Tank Milk on US Dairies von Van Kessel, J.S., Karns, J.S., Gorski, L., McCluskey, B.J., Perdue, M.L.

Volltext

Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation von Egorov, Mikhail V, Capestrano, Mariagrazia, Vorontsova, Olesya A, Di Pentima, Alessio, Egorova, Anastasia V, Mariggiò, Stefania, Ayala, M Inmaculada, Tetè, Stefano, Gorski, Jerome L, Luini, Alberto, Buccione, Roberto, Polishchuk, Roman S

Volltext

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome von Thienpont, Bernard, Béna, Frédérique, Breckpot, Jeroen, Philip, Nicole, Menten, Björn, Van Esch, Hilde, Scalais, Emmanuel, Salamone, Jessica M, Fong, Chin-To, Kussmann, Jennifer L, Grange, Dorothy K, Gorski, Jerome L, Zahir, Farah, Yong, Siu Li, Morris, Michael M, Gimelli, Stefania, Fryns, Jean-Pierre, Mortier, Geert, Friedman, Jan M, Villard, Laurent, Bottani, Armand, Vermeesch, Joris R, Cheung, Sau Wai, Devriendt, Koen

Volltext

Analysis of Distribution of Expanded- and Standard-Criteria Donors and Complications Among Polish Recipients by Kidney Donor Risk Index Value von Serwanska-Swietek, M., Wszola, M., Domagala, P., Berman, A., Bieniasz, M., Kieszek, R., Karpeta, E., Gorski, L., Kwapisz, M., Ostaszewska, A., Sobol, M., Bednarska, K., Gniewkiewicz, M., Perkowska-Ptasinska, A., Deborska-Materkowska, D., Gozdowska, J., Durlik, M., Chmura, A., Kwiatkowski, A.

Volltext

Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance von Hedera, Peter, Gorski, Jerome L.

Volltext

Clinical implication of intra‐amniotic sludge on ultrasound in patients with cervical cerclage von Gorski, L. A., Huang, W. H., Iriye, B. K., Hancock, J.

Volltext

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay von Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G

Volltext

An obscure cause of gastrointestinal bleeding: Renal cell carcinoma metastasis to the small bowel von Gorski, Robyn L, Jalil, Salah Abdel, Razick, Manver, Jalil, Ala' Abdel

Volltext

Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape von Hou, Peng, Estrada, Lourdes, Kinley, Andrew W., Parsons, J. Thomas, Vojtek, Anne B., Gorski, Jerome L.

Volltext

Renal Transplantation Using Kidneys Procured From Elderly Donors Older Than 70 Years von Jozwik, A, Domagala, P, Kieszek, R, Wszola, M, Serwanska-Swietek, M, Karpeta, E, Gorski, L, Bieniasz, M, Jonas, M, Berman, A, Paczek, L, Durlik, M, Chmura, A, Kwiatkowski, A

Volltext

Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane von ESTRADA, Lourdes, CARON, Emmanuelle, GORSKI, Jerome L

Volltext

Structure and Properties of WO3-ZrO2 Gel Composites as Potential Catalysts for Hydrocarbons Isomerization Process von Iller, E., Wawszczak, D., Górski, L.

Volltext

Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases von Olson, Michael F., Pasteris, N.German, Gorski, Jerome L., Hall, Alan

Volltext

Molecular and clinical delineation of the 17q22 microdeletion phenotype von Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann

Volltext