 | Up a level |
2020
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
2019
Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth ORCID: 0000-0001-6749-3661, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh and Campeau, Philippe M.
(2019).
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am. J. Hum. Genet., 105 (2).
S. 384 - 395.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2016
Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba ORCID: 0000-0001-5371-6756, Stanier, Philip ORCID: 0000-0001-9340-8117, Knapp, Michael and Ludwig, Kerstin U.
(2016).
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Am. J. Hum. Genet., 98 (4).
S. 755 - 763.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605