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NARA Subscribed7
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Springer Nature7
Journal
Human Genetics7
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20161
20131
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19971
Koen Devriendt results 7 · Newest (Page 1/1, per page 25)
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeNARA Subscribed
Human Genetics · 2016 · Vol. 135 · Issue 3 · Springer
Elisabeth E. Mlynarski; Michael Xie; Deanne Taylor; Molly B. Sheridan; Tingwei Guo; Silvia E. Racedo; Donna M. McDonald-McGinn; Eva W. C. Chow; Jacob Vorstman; Ann Swillen; Koen Devriendt; Jeroen Breckpot; Maria Cristina Digilio; Bruno Marino; Bruno Dallapiccola; Nicole Philip; Tony J. Simon; Amy E. Roberts; Małgorzata Piotrowicz; Carrie E. Bearden; Stephan Eliez; Doron Gothelf; Karlene Coleman; Wendy R. Kates; Marcella Devoto; Elaine Zackai; Damian Heine- Suñer; Elizabeth Goldmuntz; Anne S. Bassett; Bernice E. Morrow; Beverly S. Emanuel
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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityNARA Subscribed
Human Genetics · 2013 · Vol. 132 · Issue 10 · Springer
Joke Vandewalle; Marijke Bauters; Hilde Van Esch; Stefanie Belet; Jelle Verbeeck; Nathalie Fieremans; Maureen Holvoet; Jodie Vento; Ana Spreiz; Dieter Kotzot; Edda Haberlandt; Jill Rosenfeld; Joris Andrieux; Bruno Delobel; Marie-Bertille Dehouck; Koen Devriendt; Jean-Pierre Fryns; Peter Marynen; Amy Goldstein; Guy Froyen
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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndromeNARA Subscribed
Human Genetics · 2003 · Vol. 112 · Issue 3 · Springer
Jennifer Winter; Tanja Lehmann; Vanessa Suckow; Zofia Kijas; Andreas Kulozik; Vera Kalscheuer; Ben Hamel; Koen Devriendt; John Opitz; Steffen Lenzner; Hans-Hilger Ropers; Susann Schweiger
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Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosisNARA Subscribed
Human Genetics · 2001 · Vol. 108 · Issue 4 · Springer
Stuart Knight; Tom Vulliamy; Ben Morgan; Koen Devriendt; Philip Mason; Inderjeet Dokal
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Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decayNARA Subscribed
Human Genetics · 2000 · Vol. 106 · Issue 6 · Springer
Zsolt Urbán; Virginia V. Michels; Stephen N. Thibodeau; Elaine C. Davis; Jean-Paul Bonnefont; Arnold Munnich; Benedicte Eyskens; Marc Gewillig; Koen Devriendt; Charles D. Boyd
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Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decayNARA Subscribed
Human Genetics · 2000 · Vol. 106 · Issue 6 · Springer
Zsolt Urbán; Virginia V. Michels; Stephen N. Thibodeau; Elaine C. Davis; Jean-Paul Bonnefont; Arnold Munnich; Benedicte Eyskens; Marc Gewillig; Koen Devriendt; Charles D. Boyd
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Interstitial telomeric sequences at the junction site of a jumping translocationNARA Subscribed
Human Genetics · 1997 · Vol. 99 · Issue 6 · Springer
Joris Robert Vermeesch; Paul Petit; Frank Speleman; Koen Devriendt; Jean-Pierre Fryns; P. Marynen
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