Ohcanbohtosat - Mortier, Geert

Marked Hypoplasia of the Distal Phalanges in Ellis–Van Creveld Syndrome Dahkki Marcelis, Stijn, Mortier, Geert, Vanhoenacker, Filip

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WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders Dahkki Huybrechts, Yentl, Mortier, Geert, Boudin, Eveline, Van Hul, Wim

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Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum Dahkki Thiel, Christian T. , Mortier, Geert , Kaitila, Ilkka , Reis, André , Rauch, Anita 

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data Dahkki Hellemans, Jan, Mortier, Geert, De Paepe, Anne, Speleman, Frank, Vandesompele, Jo

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A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report Dahkki Haenen, Filip, Alders, Marielle, Dierckx, Elke, Schil, Paul Van, Demeulemeester, Veronique, Mortier, Geert, Desager, Kristine

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Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome Dahkki Lemmerling, Marc M., Vanzieleghem, Bart D., Mortier, Geert R., Dhooge, Ingeborg J., Kunnen, Marc F.

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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips Dahkki Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, Mortier, Geert R.

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Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M) Dahkki Das, Liza, Dhiman, Vandana, Van Hul, Wim, Bhansali, Anil, Gogate, Yashpal, Steenackers, Ellen, Mortier, Geert, Bhadada, Sanjay Kumar

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Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12 Dahkki Menten, Björn, Buysse, Karen, Vermeulen, Stefan, Meersschaut, Valerie, Vandesompele, Jo, Ng, Bee L., P.Carter, Nigel, Mortier, Geert R., Speleman, Frank

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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions Dahkki Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Nasal speech in patients with 12q15 microdeletions Dahkki Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome Dahkki Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne

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XYLT1 Mutations in Desbuquois Dysplasia Type 2 Dahkki Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie

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Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Dahkki Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, Mortier, Geert

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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis Dahkki Huybrechts, Yentl, Boudin, Eveline, Hendrickx, Gretl, Steenackers, Ellen, Hamdy, Neveen, Mortier, Geert, Martínez Díaz-Guerra, Guillermo, Bracamonte, Milagros Sierra, Appelman-Dijkstra, Natasha M., Van Hul, Wim

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Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes Dahkki Fransen, Erik, Valgaeren, Hanne, Janssens, Katleen, Sommen, Manou, De Ridder, Raphael, Vandeweyer, Geert, Bisceglia, Luigi, Soler, Vincent, Hoischen, Alexander, Mortier, Geert, Malecaze, François, Koppen, Carina, Van Camp, Guy

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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome Dahkki van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank

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Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors Dahkki Vandamme, Timon, Beyens, Matthias, de Beeck, Ken Op, Dogan, Fadime, van Koetsveld, Peter M, Pauwels, Patrick, Mortier, Geert, Vangestel, Christel, de Herder, Wouter, Van Camp, Guy, Peeters, Marc, Hofland, Leo J

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 Dahkki Menten, Björn, Buysse, Karen, Zahir, Farah, Hellemans, Jan, Hamilton, Sara J, Costa, Teresa, Fagerstrom, Carrie, Anadiotis, George, Kingsbury, Daniel, McGillivray, Barbara C, Marra, Marco A, Friedman, Jan M, Speleman, Frank, Mortier, Geert

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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations Dahkki Vergult, Sarah, Dauber, Andrew, Chiaie, Barbara Delle, Van Oudenhove, Elke, Simon, Marleen, Rihani, Ali, Loeys, Bart, Hirschhorn, Joel, Pfotenhauer, Jean, Phillips, John A, Mohammed, Shehla, Ogilvie, Caroline, Crolla, John, Mortier, Geert, Menten, Björn

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