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Postprint
Consortium of Swiss Academic Libraries

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl

Kollios, Konstantinos ; Tsolaki, Anastasia ; Antachopoulos, Charalampos ; Moix, I. ; Morris, Michael A. ; Papadopoulou, Maria ; Roilides, Emmanuel

In: Journal of Pediatric Endocrinology and Metabolism, 2011, vol. 24, no. 7-8, p. 599-601

Postprint
Consortium of Swiss Academic Libraries

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

Hutter, Pierre ; E.Antonarakis, Stylianos ; Delozier-Blanchet, Célla D. ; Morris, Michael A.

In: Human Molecular Genetics, 1994, vol. 3, no. 4, p. 663-665

Postprint
Consortium of Swiss Academic Libraries

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

Rosslter, Judith Pratt ; Young, Michele ; Kimberland, Michelle L. ; Hutter, Pierre ; Ketterling, Rhett P. ; Gitschier, Jane ; Horst, Jürgen ; Morris, Michael A. ; Schaid, Daniel J. ; de Moerloose, Phillppe ; Sommer, Steve S. ; Kazazian, Haig H. ; Antonarakis, Styllanos E.

In: Human Molecular Genetics, 1994, vol. 3, no. 7, p. 1035-1039

3 results 1