Direct fluorescent labelling of clones by DOP PCR

por Backx, Liesbeth, Thoelen, Reinhilde, Van Esch, Hilde, Vermeesch, Joris R
Publicado 2008

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

por Neerinckx, Barbara, Thues, Cedric, Wouters, Carine, Lechner, Sarah, Westhovens, Rene, Van Esch, Hilde
Publicado 2015

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

por Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.
Publicado 2018

Network Analysis of Differential Expression for the Identification of Disease-Causing Genes

por Nitsch, Daniela, Tranchevent, Léon-Charles, Thienpont, Bernard, Thorrez, Lieven, Van Esch, Hilde, Devriendt, Koenraad, Moreau, Yves
Publicado 2009

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates

por Liang, Chen, Kerr, Alicia, Qiu, Yangfengzhong, Cristofoli, Francesca, Van Esch, Hilde, Fox, Michael A., Mukherjee, Konark
Publicado 2017

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

por Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Publicado 2018

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia

por Zagnoli-Vieira, Guido, Brazina, Jan, Van Den Bogaert, Kris, Huybrechts, Wim, Molenaers, Guy, Caldecott, Keith W., Van Esch, Hilde
Publicado 2023

RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

por Van Daele, Sien H., Moisse, Matthieu, Race, Valérie, Van Eesbeeck, Amélie, Keldermans, Liesbeth, Vermeer, Sascha, Van Esch, Hilde, Claeys, Kristl G., Van Damme, Philip
Publicado 2021

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

por 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
Publicado 2015

Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations

por De Vocht, Joke, Van Weehaeghe, Donatienne, Ombelet, Fouke, Masrori, Pegah, Lamaire, Nikita, Devrome, Martijn, Van Esch, Hilde, Moisse, Mathieu, Koole, Michel, Dupont, Patrick, Van Laere, Koen, Van Damme, Philip
Publicado 2023

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

por 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
Publicado 2021

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

por 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
Publicado 2021

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation

por Gottschalk, Ilona, Kölsch, Uwe, Wagner, Dimitrios L., Kath, Jonas, Martini, Stefania, Krüger, Renate, Puel, Anne, Casanova, Jean-Laurent, Jezela-Stanek, Aleksandra, Rossi, Rainer, Chehadeh, Salima El, Van Esch, Hilde, von Bernuth, Horst
Publicado 2022

Positron Emission Tomography (PET) Quantification of GABA(A) Receptors in the Brain of Fragile X Patients

por D’Hulst, Charlotte, Heulens, Inge, Van der Aa, Nathalie, Goffin, Karolien, Koole, Michel, Porke, Kathleen, Van De Velde, Marc, Rooms, Liesbeth, Van Paesschen, Wim, Van Esch, Hilde, Van Laere, Koen, Kooy, R. Frank
Publicado 2015

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

por Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Publicado 2014

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

por Lopes, Fátima, Torres, Fátima, Soares, Gabriela, van Karnebeek, Clara D., Martins, Cecília, Antunes, Diana, Silva, João, Muttucomaroe, Lauren, Botelho, Luís Filipe, Sousa, Susana, Rendeiro, Paula, Tavares, Purificação, Van Esch, Hilde, Rajcan-Separovic, Evica, Maciel, Patrícia
Publicado 2019

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

por Mensah, Martin A., Hestand, Matthew S., Larmuseau, Maarten H. D., Isrie, Mala, Vanderheyden, Nancy, Declercq, Matthias, Souche, Erika L., Van Houdt, Jeroen, Stoeva, Radka, Van Esch, Hilde, Devriendt, Koen, Voet, Thierry, Decorte, Ronny, Robinson, Peter N., Vermeesch, Joris R.
Publicado 2014

Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the R...

por Zhang, Huayu, Prins, Jurriën, Vreeken, Dianne, Florijn, Barend W, de Bruin, Ruben G, van Hengel, Oscar RJ, van Essen, Mieke F, Duijs, Jacques MGJ, Van Esch, Hilde, van der Veer, Eric P, van Zonneveld, Anton Jan, van Gils, Janine M
Publicado 2020

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

por Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, Meersschaut, Valérie, Walraedt, Sophie, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Publicado 2010

Altered neuronal network and rescue in a human MECP2 duplication model

por Nageshappa, Savitha, Carromeu, Cassiano, Trujillo, Cleber A., Mesci, Pinar, Espuny-Camacho, Ira, Pasciuto, Emanuela, Vanderhaeghen, Pierre, Verfaillie, Catherine, Raitano, Susanna, Kumar, Anujith, Carvalho, Claudia M.B., Bagni, Claudia, Ramocki, Melissa B., Araujo, Bruno H. S., Torres, Laila B., Lupski, James R., Van Esch, Hilde, Muotri, Alysson R.
Publicado 2015