Canlyniadau Chwilio - Van Esch, Hilde

Direct fluorescent labelling of clones by DOP PCR gan Backx, Liesbeth, Thoelen, Reinhilde, Van Esch, Hilde, Vermeesch, Joris R

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Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 gan Backx, Liesbeth, Ceulemans, Berten, Vermeesch, Joris Robert, Devriendt, Koen, Van Esch, Hilde

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A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings gan Neerinckx, Barbara, Thues, Cedric, Wouters, Carine, Lechner, Sarah, Westhovens, Rene, Van Esch, Hilde

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Novel CASK mutations in cases with syndromic microcephaly gan Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Van Esch, Hilde, Vermeesch, Joris R.

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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability gan Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.

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Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening gan Cristofoli, Francesca, De Keersmaecker, Bart, De Catte, Luc, Vermeesch, Joris R., Van Esch, Hilde

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Network Analysis of Differential Expression for the Identification of Disease-Causing Genes gan Nitsch, Daniela, Tranchevent, Léon-Charles, Thienpont, Bernard, Thorrez, Lieven, Van Esch, Hilde, Devriendt, Koenraad, Moreau, Yves

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Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates gan Liang, Chen, Kerr, Alicia, Qiu, Yangfengzhong, Cristofoli, Francesca, Van Esch, Hilde, Fox, Michael A., Mukherjee, Konark

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A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome gan Zhang, Zhe, Norris, Joy, Kalscheuer, Vera, Wood, Tim, Wang, Lin, Schwartz, Charles, Alexov, Emil, Van Esch, Hilde

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Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience gan Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.

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Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms gan Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde

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RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement gan Van Daele, Sien H., Moisse, Matthieu, Race, Valérie, Van Eesbeeck, Amélie, Keldermans, Liesbeth, Vermeer, Sascha, Van Esch, Hilde, Claeys, Kristl G., Van Damme, Philip

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Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy gan Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A.M., Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M.

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A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders gan Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.

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A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function gan Okray, Zeynep, de Esch, Celine EF, Van Esch, Hilde, Devriendt, Koen, Claeys, Annelies, Yan, Jiekun, Verbeeck, Jelle, Froyen, Guy, Willemsen, Rob, de Vrij, Femke MS, Hassan, Bassem A

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Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation gan Tao, Jiong, Van Esch, Hilde, Hagedorn-Greiwe, M., Hoffmann, Kirsten, Moser, Bettina, Raynaud, Martine, Sperner, Jürgen, Fryns, Jean-Pierre, Schwinger, Eberhard, Gécz, Jozef, Ropers, Hans-Hilger, Kalscheuer, Vera M.

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MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome gan Thues, Cedric, Valadas, Jorge S., Deaulmerie, Liesbeth, Geens, Ann, Chouhan, Amit K., Duran-Romaña, Ramon, Schymkowitz, Joost, Rousseau, Frederic, Bartusel, Michaela, Rehimi, Rizwan, Rada-Iglesias, Alvaro, Verstreken, Patrik, Van Esch, Hilde

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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy gan Hyder, Zerin, Van Paesschen, Wim, Sabir, Ataf, Sansbury, Francis H., Burke, Katherine B., Khan, Naz, Chandler, Kate E., Cooper, Nicola S., Wright, Ronnie, McHale, Edward, Van Esch, Hilde, Banka, Siddharth

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males gan Van Esch, Hilde , Bauters, Marijke , Ignatius, Jaakko , Jansen, Mieke , Raynaud, Martine , Hollanders, Karen , Lugtenberg, Dorien , Bienvenu, Thierry , Jensen, Lars Riff , Gécz, Jozef , Moraine, Claude , Marynen, Peter , Fryns, Jean-Pierre , Froyen, Guy 

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NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications gan Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence

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