Non-disjunction of chromosome 13
Bugge, Merete, Collins, Andrew, Hertz, Jens Michael, Eiberg, Hans, Lundsteen, Claes, Brandt, Carsten A., Bak, Mads, Hansen, Claus, deLozier, Celia D., Lespinasse, James, Tranebjaerg, Lisbeth, Hahnemann, Johanne M.D., Rasmussen, Kirsten, Bruun-Petersen, Gert, Duprez, Laurence, Tommerup, Niels, Petersen, Michael B.
Published in Human molecular genetics (15.08.2007)
Published in Human molecular genetics (15.08.2007)
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No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
BOONEN, Susanne E, HAHNEMANN, Johanne Md, MACKAY, Deborah, TOMMERUP, Niels, BRØNDUM-NIELSEN, Karen, TÜMER, Zeynep, GRØNSKOV, Karen
Published in European journal of human genetics : EJHG (01.01.2012)
Published in European journal of human genetics : EJHG (01.01.2012)
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Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
BOONEN, Susanne E, PÖRKSEN, Sven, MACKAY, Deborah J. G, OESTERGAARD, Elsebet, OLSEN, Birthe, BRONDUM-NIELSEN, Karen, TEMPLE, I. Karen, HAHNEMANN, Johanne M. D
Published in European journal of human genetics : EJHG (01.04.2008)
Published in European journal of human genetics : EJHG (01.04.2008)
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Thiamine‐responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood
Olsen, Birthe S, Hahnemann, Johanne MD, Schwartz, Marianne, Østergaard, Elsebeth
Published in Pediatric diabetes (01.08.2007)
Published in Pediatric diabetes (01.08.2007)
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