Ngā hua rapu - Van Esch, Hilde

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy mā 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.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders mā 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.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation mā 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.

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males mā 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 

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications mā 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

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa