Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

por Desir, Julie, Abramowicz, Marc
Publicado 2008

New-Onset Diabetes After Renal Transplantation: Risk assessment and management

por Ghisdal, Lidia, Van Laecke, Steven, Abramowicz, Marc J., Vanholder, Raymond, Abramowicz, Daniel
Publicado 2012

Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1

por Duerinckx, Sarah, Meuwissen, Marije, Perazzolo, Camille, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc
Publicado 2018

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

por Désir, Julie, Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc
Publicado 2010

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

por Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique
Publicado 2012

Severe congenital microcephaly with AP4M1 mutation, a case report

por Duerinckx, Sarah, Verhelst, Helene, Perazzolo, Camille, David, Philippe, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc
Publicado 2017

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

por Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel
Publicado 2004

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

por Sassi, Asma, Désir, Julie, Duerinckx, Sarah, Soblet, Julie, Van Dooren, Sonia, Bonduelle, Maryse, Abramowicz, Marc, Delbaere, Anne
Publicado 2021

DIDA: A curated and annotated digenic diseases database

por Gazzo, Andrea M., Daneels, Dorien, Cilia, Elisa, Bonduelle, Maryse, Abramowicz, Marc, Van Dooren, Sonia, Smits, Guillaume, Lenaerts, Tom
Publicado 2016

Variable Intrafamilial Expression of ABCB4 Disease

por Zampaglione, Lucia, Rougemont, Anne-Laure, Rubbia-Brandt, Laura, Abramowicz, Marc, Guipponi, Michel, Marchionni, Enrica, Valerie, McLin, Goossens, Nicolas
Publicado 2023

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke

por Murray, Lydia S., Lu, Yinhui, Taggart, Aislynn, Van Regemorter, Nicole, Vilain, Catheline, Abramowicz, Marc, Kadler, Karl E., Van Agtmael, Tom
Publicado 2014

LARS2-Perrault syndrome: a new case report and literature review

por Carminho-Rodrigues, Maria Teresa, Klee, Phillipe, Laurent, Sacha, Guipponi, Michel, Abramowicz, Marc, Cao-van, Hélène, Guinand, Nils, Paoloni-Giacobino, Ariane
Publicado 2020

The taxonomy of subjective cognitive decline: proposal and first clinical evidence from the Geneva memory clinic cohort

por Ribaldi, Federica, Palomo, Rafael, Altomare, Daniele, Scheffler, Max, Assal, Frederic, Ashton, Nicholas J., Zetterberg, Henrik, Blennow, Kaj, Abramowicz, Marc, Garibotto, Valentina, Chicherio, Christian, Frisoni, Giovanni B.
Publicado 2023

UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort

por Dinic, Miriana, Ghisdal, Lidia, Racapé, Judith, Thibaudin, Lise, Gatault, Philippe, Essig, Marie, Le Meur, Yann, Noël, Christian, Touchard, Guy, Merville, Pierre, Ajarchouh, Zineb, Mariat, Christophe, Abramowicz, Marc, Abramowicz, Daniel, Alamartine, Eric
Publicado 2014

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

por Van Heurck, Roxane, Carminho-Rodrigues, Maria Teresa, Ranza, Emmanuelle, Stafuzza, Caterina, Quteineh, Lina, Gehrig, Corinne, Hammar, Eva, Guipponi, Michel, Abramowicz, Marc, Senn, Pascal, Guinand, Nils, Cao-Van, Helene, Paoloni-Giacobino, Ariane
Publicado 2021

A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers

por Marizzoni, Moira, Mirabelli, Peppino, Mombelli, Elisa, Coppola, Luigi, Festari, Cristina, Lopizzo, Nicola, Luongo, Delia, Mazzelli, Monica, Naviglio, Daniele, Blouin, Jean-Louis, Abramowicz, Marc, Salvatore, Marco, Pievani, Michela, Cattaneo, Annamaria, Frisoni, Giovanni B.
Publicado 2023

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

por Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline
Publicado 2013

Donor-Derived Myeloid Heme Oxygenase-1 Controls the Development of Graft-Versus-Host Disease

por Spilleboudt, Chloé, De Wilde, Virginie, Lewalle, Philippe, Cabanne, Ludovic, Leclerc, Mathieu, Beckerich, Florence, Bories, Dominique, Cardoso, Silvia, Soares, Miguel P., Vokaer, Benoît, Hougardy, Jean-Michel, Flamand, Véronique, Racapé, Judith, Abramowicz, Marc, Maury, Sébastien, Le Moine, Alain
Publicado 2021

Dementia risk communication. A user manual for Brain Health Services—part 3 of 6

por Visser, Leonie N. C., Minguillon, Carolina, Sánchez-Benavides, Gonzalo, Abramowicz, Marc, Altomare, Daniele, Fauria, Karine, Frisoni, Giovanni B., Georges, Jean, Ribaldi, Federica, Scheltens, Philip, van der Schaar, Jetske, Zwan, Marissa, van der Flier, Wiesje M., Molinuevo, José Luis
Publicado 2021

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

por Igoillo-Esteve, Mariana, Genin, Anne, Lambert, Nelle, Désir, Julie, Pirson, Isabelle, Abdulkarim, Baroj, Simonis, Nicolas, Drielsma, Anais, Marselli, Lorella, Marchetti, Piero, Vanderhaeghen, Pierre, Eizirik, Décio L., Wuyts, Wim, Julier, Cécile, Chakera, Ali J., Ellard, Sian, Hattersley, Andrew T., Abramowicz, Marc, Cnop, Miriam
Publicado 2013