DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der Aa, Nathalie, Skalej, Martin, Mundlos, Stefan, Wuyts, Wim, Southgate, Laura, Zenker, Martin
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Journal Article
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Bramswig, Nuria C., Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der Aa, Nathalie, Skalej, Martin, Mundlos, Stefan, Wuyts, Wim, Southgate, Laura, Zenker, Martin
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
Dimitrov, Boyan, Balikova, Irina, de Ravel, Thomy, Van Esch, Hilde, De Smedt, Maryse, Baten, Emiel, Vermeesch, Joris Robert, Bradinova, Irena, Simeonov, Emil, Devriendt, Koen, Fryns, Jean-Pierre, Debeer, Philippe
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
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A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus
Van Esch, Hilde, Mariën, Paul, De Smedt, Maryse, Fryns, Jean-Pierre
Published in Clinical dysmorphology (01.10.2004)
Published in Clinical dysmorphology (01.10.2004)
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