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Orphanet Journal of Rare Diseases|February 14, 2007
Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomyEric Scott Sills, M J Burns, Laurinda D Parker, et al.
Orphanet Journal of Rare Diseases|March 29, 2007
Cirrhotic cardiomyopathySoon Koo Baik, Tamer R Fouad, Samuel S Lee
Orphanet Journal of Rare Diseases|April 3, 2007
Inborn errors in the metabolism of glutathioneEllinor Ristoff, Agne Larsson
Orphanet Journal of Rare Diseases|January 16, 2007
Noonan syndromeIneke van der Burgt
Orphanet Journal of Rare Diseases|October 26, 2006
Primary sclerosing cholangitisJoy Worthington, Roger Chapman
Orphanet Journal of Rare Diseases|January 11, 2007
Essential thrombocythemiaJean B Brière
Orphanet Journal of Rare Diseases|January 17, 2007
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failureBernd Gruhn, Joerg Seidel, Felix Zintl, et al.
Orphanet Journal of Rare Diseases|May 15, 2007
Hypoplastic left heart syndromeJean Anne Connor, Ravi Thiagarajan
Orphanet Journal of Rare Diseases|May 17, 2007
Central core diseaseHeinz Jungbluth
Orphanet Journal of Rare Diseases|October 13, 2006
Foetal and neonatal alloimmune thrombocytopaeniaCecile Kaplan
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