Torthaí cuardaigh - Johnston Jennifer
- 1 - 3 toradh as 3 á dtaispeáint
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1
Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes de réir Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G
Foilsithe / Cruthaithe 2009Gairmuimhir: Ag lódáil…Connect to this object online.
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2
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the <it>EVC </it>gene de réir Cockerham John, Sapp Julie C, Gül Davut, Ulucan Hakan, Johnston Jennifer J, Biesecker Leslie G
Foilsithe / Cruthaithe 2008Gairmuimhir: Ag lódáil…Connect to this object online.
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3
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS) de réir Johnston Jennifer, Brinckman Danielle, Sapp Julie C, Blumhorst Catherine, Keppler-Noreuil Kim M, Nopoulos Peggy C, Biesecker Leslie G
Foilsithe / Cruthaithe 2011Gairmuimhir: Ag lódáil…Connect to this object online.
Suíomh: Ag lódáil…
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