Search

Author/Creator Devriendt, Koenraad

1. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome. Issue 2 (14th November 2020)

Authors:
Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne‐Sophie; Nourisson, Elsa; Leitch, Carmen C.; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim; Dahl, Niklas; Deleuze, Jean‐François; Génin, Emmanuelle;...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 2(2021)
Page Start:
318
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Issue 9 (8th August 2018)

Authors:
Lumaka, Aimé; Race, Valerie; Peeters, Hilde; Corveleyn, Anniek; Coban‐Akdemir, Zeynep; Jhangiani, Shalini N.; Song, Xiaofei; Mubungu, Gerrye; Posey, Jennifer; Lupski, James R.; Vermeesch, Joris R.; Lukusa, Prosper; Devriendt, Koenraad
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
1897
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium. (17th February 2023)

Authors:
Lannoo, Lore; van der Meij, Karuna R. M.; Bekker, Mireille N.; De Catte, Luc; Deckers, Sarah; Devriendt, Koenraad; Roggen, Nele; Galjaard, Robert‐Jan H.; Gitsels‐van der Wal, Janneke; Macville, Merryn V. E.; Martin, Linda; Sistermans, Erik A.; Van Calsteren, Kristel; Van Keirsbilck, Joachim; Crom...
Journal:
Prenatal diagnosis
Issue:
Volume 43:Number 3(2023)
Page Start:
294
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Agnathia otocephaly: A case from the Katanga Copperbelt. Issue 16 (8th July 2020)

Authors:
Kayembe‐Kitenge, Tony; Manyong'a Kadiamba, Vicky; de Luca, Chiara; Musa Obadia, Paul; Kasamba Ilunga, Eric; Mbuyi‐Musanzayi, Sébastien; Nawrot, Tim; Lubaba Nkulu, Célestin Banza; Nemery, Benoit; Devriendt, Koenraad
Journal:
Birth defects research
Issue:
Volume 112:Issue 16(2020)
Page Start:
1287
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018)

Authors:
Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1236
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series. Issue 1 (9th March 2017)

Authors:
Mikobi, Tite Minga; Lukusa, Prosper Tshilobo; Aloni, Michel Ntetani; Lumaka, Aimé; Akilimali, Pierre Zalagile; Devriendt, Koenraad; Matthijs, Gert; Mbuyi Muamba, Jean‐Marie; Race, Valerie
Journal:
Journal of clinical laboratory analysis
Issue:
Volume 32:Issue 1(2018)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018)

Authors:
Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève...
Journal:
Human mutation
Issue:
Volume 39:Issue 3(2018)
Page Start:
319
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015)

Authors:
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
296
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa. Issue 1 (31st December 2023)

Authors:
Mbayabo, Gloire; Ngole, Mamy; Lumbala, Paul Kabuyi; Lumaka, Aimé; Race, Valerie; Matthijs, Gert; Mikobi, Tite Minga; Devriendt, Koenraad; Van Geet, Chris; Lukusa, Prosper Tshilobo
Journal:
Hematology
Issue:
Volume 28:Issue 1(2023)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016)

Authors:
Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
670
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗