 | Up a level |
Journal Article
Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmueller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba 
ORCID: 0000-0001-5371-6756, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas ORCID: 0000-0002-0119-5896, Blok, Lot Snijders, Stoler, Joan M., Tang, Sha, Tartaglia, Marco ORCID: 0000-0001-7736-9672, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe ORCID: 0000-0001-9713-7107 and Bhoj, Elizabeth
(2020).
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur. J. Hum. Genet., 28 (10).
S. 1422 - 1432.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Jones, Claire, Denecke, Jonas, Straeter, Ronald, Stoelting, Torsten, Schunicht, Yvonne, Zeuschner, Dagmar, Klumperman, Judith, Lefeber, Dirk J., Spelten, Oliver, Zarbock, Alexander, Kelm, Sorge, Strenge, Karen, Haslam, Stuart M., Luehn, Kerstin, Stahl, Dorothea, Gentile, Luca ORCID: 0000-0002-7393-7502, Schreiter, Thomas, Hilgard, Philip, Beck-Sickinger, Annette G., Marquardt, Thorsten and Wild, Martin K.
(2011).
A Novel Type of Macrothrombocytopenia Associated with a Defect in alpha 2,3-Sialylation.
Am. J. Pathol., 179 (4).
S. 1969 - 1978.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1525-2191
Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X
(2021).
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Neurogenetics, 22 (4).
S. 263 - 270.
NEW YORK:
SPRINGER.
ISSN 1364-6753