 | Up a level |
2019
Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara 
ORCID: 0000-0002-0939-3213, Hunter, Jill, V, McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cedric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Milian, Francisca, Wentzensen, Ingrid M., Person, Richard E., Kury, Sebastien, Bezieau, Stephane, Uguen, Kevin, Ferec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Pena, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja and Schaaf, Christian P.
(2019).
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet. Med., 21 (8).
S. 1797 - 1808.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
2016
Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo ORCID: 0000-0001-8486-0558, Afawi, Zaid, Pendziwiat, Manuela, Abu-Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise and Krawitz, Peter M.
(2016).
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Hum. Mutat., 37 (8).
S. 737 - 745.
HOBOKEN:
WILEY-BLACKWELL.
ISSN 1098-1004
2012
Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nuernberg, Gudrun, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Hofmann, Kay, Konen, Osnat, Nuernberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina
(2012).
elF2 gamma Mutation that Disrupts elF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation.
Mol. Cell, 48 (4).
S. 641 - 647.
CAMBRIDGE:
CELL PRESS.
ISSN 1097-2765