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Angius, Andrea ORCID: 0000-0003-2596-6461, Uva, Paolo
ORCID: 0000-0002-9524-8492, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana
ORCID: 0000-0001-9946-1509, Loi, Angela, Marcia, Loredana, Hoehne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara
ORCID: 0000-0002-7321-2384, Atalay, Hatice Tuba
ORCID: 0000-0002-1847-615X, Inan, Sibel, El Assy, Osama, Smit, Leo M. E., Okur, Ilyas, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Utine, Gulen Eda, Kilic, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura
ORCID: 0000-0001-9128-8537 and Rutsch, Frank
(2016).
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am. J. Hum. Genet., 99 (1).
S. 236 - 246.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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
Pan, Wayne, Guillen-Navarro, Encama, Queisser-Wahrendorf, Annette, Semler, Oliver, Maghnie, Mohamad, Allegri, Anna Elsa Maria ORCID: 0000-0002-5927-049X, Selicomi, Angelo, Gonzalez-Meneses, Antonio, Zampino, Giuseppe, Onesimo, Roberta, Perez-Tomas, Elena, Mariscal, Jorge, Wieset, Awi, Taje, Silvia, Rehberg, Mirko, Haeusler, Gabriele, Hagenas, Lars, Leiva, Antonio, Delgado, Borja, Queipo de Llano, Alfonso, Ertl, Diana-Alexandra, Gregersen, Pernille Axel, Shediac, Renee, Jarrett, James, Mukherjee, Swati and Mohnike, Klaus
(2020).
Lifetime impact of achondroplasia on health-related quality of life (HR-QoL) and healthcare resource use: interim results from a multinational study.
Horm. Res. Paediatr., 93.
S. 120 - 122.
BASEL:
KARGER.
ISSN 1663-2826