Search Results - Callewaert, Bert

Expanding the Phenotype of B3GALNT2-Related Disorders by D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert

Get full text Get full text Get full text

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments by Boel, Annekatrien, De Saffel, Hanna, Steyaert, Wouter, Callewaert, Bert, De Paepe, Anne, Coucke, Paul J., Willaert, Andy

Get full text Get full text Get full text

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment by Boel, Annekatrien, Steyaert, Woutert, De Rocker, Nina, Menten, Björn, Callewaert, Bert, De Paepe, Anne, Coucke, Paul, Willaert, Andy

Get full text Get full text Get full text

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment by Boel, Annekatrien, Steyaert, Wouter, De Rocker, Nina, Menten, Björn, Callewaert, Bert, De Paepe, Anne, Coucke, Paul, Willaert, Andy

Get full text Get full text Get full text

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients by Campens, Laurence, Callewaert, Bert, Muiño Mosquera, Laura, Renard, Marjolijn, Symoens, Sofie, De Paepe, Anne, Coucke, Paul, De Backer, Julie

Get full text Get full text Get full text

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene by Mehar, Virendra, Yadav, Dinesh, Kumar, Ravindra, Yadav, Summi, Singh, Kuldeep, Callewaert, Bert, Pathan, Shahnawaz, De Paepe, Anne, Coucke, Paul J.

Get full text Get full text Get full text

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures by Pottie, Lore, Van Gool, Wouter, Vanhooydonck, Michiel, Hanisch, Franz-Georg, Goeminne, Geert, Rajkovic, Andreja, Coucke, Paul, Sips, Patrick, Callewaert, Bert

Get full text Get full text Get full text

Lack of resemblance between Myhre syndrome and other “segmental progeroid” syndromes warrants restraint in applying this classification by Lin, Angela E., Brunetti-Pierri, Nicola, Callewaert, Bert, Cormier-Daire, Valérie, Douzgou, Sofia, Kinane, T. Bernard, Lindsay, Mark E., Starr, Lois J.

Get full text Get full text Get full text

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations by Verlee, Maxim, Beyens, Aude, Gezdirici, Alper, Gulec, Elif Yilmaz, Pottie, Lore, De Feyter, Silke, Vanhooydonck, Michiel, Tapaneeyaphan, Piyanoot, Symoens, Sofie, Callewaert, Bert

Get full text Get full text Get full text

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans by Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J

Get full text Get full text Get full text

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development by Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine

Get full text Get full text Get full text

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families by Essawi, Osama, Symoens, Sofie, Fannana, Maha, Darwish, Mohammad, Farraj, Mohammad, Willaert, Andy, Essawi, Tamer, Callewaert, Bert, De Paepe, Anne, Malfait, Fransiska, Coucke, Paul J.

Get full text Get full text Get full text

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome by Hulle, Severine Van, Craen, Margarita, Callewaert, Bert, Joustra, Sjoerd, Oostdijk, Wilma, Losekoot, Monique, Wit, Jan Maarten, Turgeon, Marc Olivier, Bernard, Daniel J., Schepper, Jean De

Get full text Get full text Get full text

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients by Németh, Csilla E., Nemoda, Zsófia, Lőw, Péter, Szabó, Pál, Horváth, Erzsébet Z., Willaert, Andy, Boel, Annekatrien, Callewaert, Bert L., Coucke, Paul J., Colombi, Marina, Bánhegyi, Gábor, Margittai, Éva

Get full text Get full text Get full text

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature by Beyens, Aude, Van Meensel, Kyaran, Pottie, Lore, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Hoebeke, Piet, Plasschaert, Frank, Loeys, Bart, De Schepper, Sofie, Symoens, Sofie, Callewaert, Bert

Get full text Get full text Get full text

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling by Willaert, Andy, Khatri, Sandeep, Callewaert, Bert L., Coucke, Paul J., Crosby, Seth D., Lee, Joseph G. H., Davis, Elaine C., Shiva, Sruti, Tsang, Michael, De Paepe, Anne, Urban, Zsolt

Get full text Get full text Get full text

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome by Meerschaut, Ilse, Vergult, Sarah, Dheedene, Annelies, Menten, Björn, De Groote, Katya, De Wilde, Hans, Muiño Mosquera, Laura, Panzer, Joseph, Vandekerckhove, Kristof, Coucke, Paul J., De Wolf, Daniël, Callewaert, Bert

Get full text Get full text Get full text

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathi... by Beyens, Aude, Dequeker, Laure, Brems, Hilde, Janssens, Sandra, Syryn, Hannes, D’Hooghe, Anne, De Paepe, Pascale, Vanwalleghem, Lieve, Stockman, Annelies, Vankwikelberge, Elena, De Schepper, Sofie, Goeteyn, Marleen, Delbeke, Patricia, Callewaert, Bert

Get full text Get full text Get full text

New insights into the pathogenesis of autosomal dominant cutis laxa with report of five ELN mutations by Callewaert, Bert, Renard, Marjolijn, Hucthagowder, Vishwanathan, Albrecht, Beate, Hausser, Ingrid, Blair, Edward, Dias, Cristina, Albino, Alice, Wachi, Hiroshi, Sato, Fumiaki, Mecham, Robert P., Loeys, Bart, Coucke, Paul J., De Paepe, Anne, Urban, Zsolt

Get full text Get full text Get full text

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity by Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine

Get full text Get full text Get full text