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Author/Creator Matthijs, Gert

1. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016)

Authors:
Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 7(2016)
Page Start:
653
Record Type:
Journal Article
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2. ALG3‐CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. (30th June 2015)

Authors:
Lepais, Laureline; Cheillan, David; Frachon, Sophie Collardeau; Hays, Stéphane; Matthijs, Gert; Panagiotakaki, Eleni; Abel, Carine; Edery, Patrick; Rossi, Massimiliano
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 11(2015:Nov.)
Page Start:
2748
Record Type:
Journal Article
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3. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016)

Authors:
Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
713
Record Type:
Journal Article
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4. Analysis of microsatellite instability in gastric mucosa-associated lymphoid tissue lymphoma. Issue 4 (April 2013)

Authors:
Degroote, Annemarie; Knippenberg, Lies; Borght, Sara Vander; Spaepen, Marijke; Matthijs, Gert; Schaeffer, David F.; Owen, David A.; Libbrecht, Louis; Lambein, Kathleen; de Hertogh, Gert; Tousseyn, Thomas; Sagaert, Xavier
Journal:
Leukemia & lymphoma
Issue:
Volume 54:Issue 4(2013:Apr.)
Page Start:
812
Record Type:
Journal Article
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5. 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
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6. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Issue 4 (10th August 2015)

Authors:
Swanson, Michael A.; Coughlin, Curtis R.; Scharer, Gunter H.; Szerlong, Heather J.; Bjoraker, Kendra J.; Spector, Elaine B.; Creadon‐Swindell, Geralyn; Mahieu, Vincent; Matthijs, Gert; Hennermann, Julia B.; Applegarth, Derek A.; Toone, Jennifer R.; Tong, Suhong; Williams, Kristina; Van Hove, Joha...
Journal:
Annals of neurology
Issue:
Volume 78:Issue 4(2015:Oct.)
Page Start:
606
Record Type:
Journal Article
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7. CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. Issue 15 (9th March 2022)

Authors:
Wilson, Matthew P; Durin, Zoé; Unal, Özlem; Ng, Bobby G; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gündüz, Mehmet; Köse, Gülşen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H; Jaeken, Jaak; Foulquier, François; Matthijs, Gert
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 15(2022)
Page Start:
2571
Record Type:
Journal Article
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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
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