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3 results 1
Postprint
Consortium of Swiss Academic Libraries

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24

de Mollerat, Xavier J. ; Gurrieri, Fiorella ; Morgan, Chad T. ; Sangiorgi, Eugenio ; Everman, David B. ; Gaspari, Paola ; Amiel, Jeanne ; Bamshad, Michael J. ; Lyle, Robert ; Blouin, Jean-Louis ; Allanson, Judith E. ; Le Marec, Bernard ; Wilson, Melba ; Braverman, Nancy E. ; Radhakrishna, Uppala ; Delozier-Blanchet, Celia ; Abbott, Albert ; Elghouzzi, Vincent ; Antonarakis, Stylianos ; Stevenson, Roger E. ; Munnich, Arnold ; Neri, Giovanni ; Schwartz, Charles E.

In: Human Molecular Genetics, 2003, vol. 12, no. 16, p. 1959-1971

Postprint
Consortium of Swiss Academic Libraries

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

May, Melanie ; Hwang, Kyu-Seok ; Miles, Judith ; Williams, Charlie ; Niranjan, Tejasvi ; Kahler, Stephen G. ; Chiurazzi, Pietro ; Steindl, Katharina ; Van Der Spek, Peter J. ; Swagemakers, Sigrid ; Mueller, Jennifer ; Stefl, Shannon ; Alexov, Emil ; Ryu, Jeong-Im ; Choi, Jung-Hwa ; Kim, Hyun-Taek ; Tarpey, Patrick ; Neri, Giovanni ; Holloway, Lynda ; Skinner, Cindy ; Stevenson, Roger E. ; Dorsky, Richard I. ; Wang, Tao ; Schwartz, Charles E. ; Kim, Cheol-Hee

In: Human Molecular Genetics, 2015, vol. 24, no. 17, p. 4848-4861

Postprint
Consortium of Swiss Academic Libraries

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Garbern, James Y. ; Neumann, Manuela ; Trojanowski, John Q. ; Lee, Virginia M.-Y ; Feldman, Gerald ; Norris, Joy W. ; Friez, Michael J. ; Schwartz, Charles E. ; Stevenson, Roger ; Sima, Anders A. F.

In: Brain, 2010, vol. 133, no. 5, p. 1391-1402

3 results 1