Хайлтын үр дүнгүүд - Mortier, Geert

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

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WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders -н 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 -н 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 -н 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 -н 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 -н 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 -н 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) -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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 -н 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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