SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card

por Jaeken, Jaak, Lefeber, Dirk J., Matthijs, Gert
Publicado 2020

Models for facilitating access to patents on genetic inventions

por Van Overwalle, Geertrui, van Zimmeren, Esther, Verbeure, Birgit, Matthijs, Gert
Publicado 2005

Patent pools and diagnostic testing

por Verbeure, Birgit, van Zimmeren, Esther, Matthijs, Gert, Van Overwalle, Geertrui
Publicado 2006

Patent pools and clearinghouses in the life sciences

por van Zimmeren, Esther, Vanneste, Sven, Matthijs, Gert, Vanhaverbeke, Wim, Van Overwalle, Geertrui
Publicado 2011

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

por Al-Owain, Mohammed, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jaak
Publicado 2010

Patient with confirmed LEOPARD syndrome developing multiple melanoma

por Colmant, Caroline, Franck, Deborah, Marot, Liliane, Matthijs, Gert, Sznajer, Yves, Blomme, Sandrine, Tromme, Isabelle
Publicado 2018

Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium

por Van Steijvoort, Eva, Peeters, Hilde, Vandecruys, Hilde, Verguts, Jasper, Peeraer, Karen, Matthijs, Gert, Borry, Pascal
Publicado 2023

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

por Reynders, Ellen, Foulquier, François, Leão Teles, Elisa, Quelhas, Dulce, Morelle, Willy, Rabouille, Cathérine, Annaert, Wim, Matthijs, Gert
Publicado 2009

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

A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study

por Thomaes, Tom, Thomis, Martine, Onkelinx, Steven, Fagard, Robert, Matthijs, Gert, Buys, Roselien, Schepers, Dirk, Cornelissen, Véronique, Vanhees, Luc
Publicado 2011

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo

por Ngole, Mamy, Race, Valerie, Mbayabo, Gloire, Lumbala, Paul, Songo, Cathy, Lukusa, Prosper Tshilobo, Devriendt, Koenraad, Matthijs, Gert, Lumaka, Aimé
Publicado 2022

A standardized framework for the validation and verification of clinical molecular genetic tests

por Mattocks, Christopher J, Morris, Michael A, Matthijs, Gert, Swinnen, Elfriede, Corveleyn, Anniek, Dequeker, Els, Müller, Clemens R, Pratt, Victoria, Wallace, Andrew
Publicado 2010

From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo

por Luyeye Mvila, Gertrude, Postema, Sandra, Marchal, Guy, Van Limbergen, Erik, Verdonck, Fons, Matthijs, Gert, Devriendt, Koen, Michils, Genevieve, Van Ongeval, Chantal
Publicado 2014

SLC35A2-CDG: Novel variant and review

por Quelhas, Dulce, Correia, Joana, Jaeken, Jaak, Azevedo, Luísa, Lopes-Marques, Mónica, Bandeira, Anabela, Keldermans, Liesbeth, Matthijs, Gert, Sturiale, Luisa, Martins, Esmeralda
Publicado 2021

COG6‐CDG: Novel variants and novel malformation

por Cirnigliaro, Lara, Bianchi, Paolo, Sturiale, Luisa, Garozzo, Domenico, Mangili, Giovanna, Keldermans, Liesbeth, Rizzo, Renata, Matthijs, Gert, Fiumara, Agata, Jaeken, Jaak, Barone, Rita
Publicado 2022

Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa

por Kabuyi, Paul Lumbala, Mbayabo, Gloire, Ngole, Mamy, Zola, Aimé Lumaka, Race, Valerie, Matthijs, Gert, Van Geet, Chris, Tshilobo, Prosper Lukusa, Devriendt, Koenraad, Mikobi, Tite Minga
Publicado 2023

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa

por Lumbala, Paul Kabuyi, Mbayabo, Gloire, Ngole, Mamy Nzita, Lumaka, Aimé, Race, Valerie, Matthijs, Gert, Van Geet, Chris, Lukusa, Prosper Tshilobo, Devriendt, Koenraad, Mikobi, Tite Minga
Publicado 2022

COG5-CDG: expanding the clinical spectrum

por Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Publicado 2012

Correction: COG5-CDG: expanding the clinical spectrum

por Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Publicado 2013

Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients

por Mikobi, Tite Minga, Lukusa Tshilobo, Prosper, Aloni, Michel Ntetani, Mvumbi Lelo, Georges, Akilimali, Pierre Zalagile, Muyembe-Tamfum, Jean Jacques, Race, Valérie, Matthijs, Gert, Mbuyi Mwamba, Jean Marie
Publicado 2015