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Author/Creator van Bever, Yolande

2. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies. (28th December 2020)

Authors:
Diderich, Karin E. M.; Romijn, Kathleen; Joosten, Marieke; Govaerts, Lutgarde C. P.; Polak, Marike; Bruggenwirth, Hennie T.; Wilke, Martina; van Slegtenhorst, Marjon A.; van Bever, Yolande; Brooks, Alice S.; Mancini, Grazia M. S.; van de Laar, Ingrid M. B. H.; Kromosoeto, Joan N. R.; Knapen, Maar...
Journal:
Acta obstetricia et gynecologica Scandinavica
Issue:
Volume 100:Number 6(2021)
Page Start:
1106
Record Type:
Journal Article
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3. Infantile hypertrophic pyloric stenosis in patients with esophageal atresia. Issue 9 (16th April 2020)

Authors:
ten Kate, Chantal A.; Brouwer, Rutger W. W.; van Bever, Yolande; Martens, Vera K.; Brands, Tom; van Beelen, Nicole W. G.; Brooks, Alice S.; Huigh, Daphne; van der Helm, Robert M.; Eussen, Bert H. F. M. M.; van IJcken, Wilfred F. J.; IJsselstijn, Hanneke; Tibboel, Dick; Wijnen, Rene M. H.; de Klei...
Journal:
Birth defects research
Issue:
Volume 112:Issue 9(2020)
Page Start:
670
Record Type:
Journal Article
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4. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Issue 10 (29th July 2022)

Authors:
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R....
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1377
Record Type:
Journal Article
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5. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. (4th February 2020)

Authors:
Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
1054
Record Type:
Journal Article
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6. High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. Issue 12 (8th November 2022)

Authors:
Douben, Hannie C. W.; Nellist, Mark; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; Hoogeveen‐Westerveld, Marianne; Louwen, Jesse; van Veghel‐Plandsoen, Monique; de Valk, Walter; Saris, Jasper J.; Hendriks, Femke; Korpershoek, Esther; Hoefsloot, Lies H.; van Vliet, Margreethe; van Bever...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2130
Record Type:
Journal Article
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7. Omphalocele: from diagnosis to growth and development at 2 years of age. Issue 1 (13th January 2019)

Authors:
Hijkoop, Annelieke; Peters, Nina C J; Lechner, Rosan L; van Bever, Yolande; van Gils-Frijters, Annabel P J M; Tibboel, Dick; Wijnen, René M H; Cohen-Overbeek, Titia E; IJsselstijn, Hanneke
Journal:
Archives of disease in childhood
Issue:
Volume 104:Issue 1(2019)
Page Start:
F18
Record Type:
Journal Article
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8. Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report. Issue 2 (11th January 2021)

Authors:
Eleftheriadou, Maria; Medici‐ van den Herik, Evita; Stuurman, Kyra; van Bever, Yolande; Hellebrekers, Debby M. E. I.; van Slegtenhorst, Marjon; Ruijter, George; Barakat, Tahsin Stefan
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 2(2021)
Page Start:
n/a
Record Type:
Journal Article
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9. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Issue 6 (23rd April 2013)

Authors:
Meuwissen, Marije E.C.; Lequin, Maarten H.; Bindels‐de Heus, Karen; Bruggenwirth, Hennie T.; Knapen, Maarten F.C.M.; Dalinghaus, Michiel; de Coo, René; van Bever, Yolande; Winkelman, Beerend H.J.; Mancini, Grazia M.S.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 6(2013:Jun.)
Page Start:
1376
Record Type:
Journal Article
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10. Omphalocele: from diagnosis to growth and development at 2 years of age. Issue 1 (21st March 2018)

Authors:
Hijkoop, Annelieke; Peters, Nina C J; Lechner, Rosan L; van Bever, Yolande; van Gils-Frijters, Annabel P J M; Tibboel, Dick; Wijnen, René M H; Cohen-Overbeek, Titia E; IJsselstijn, Hanneke
Journal:
Archives of disease in childhood
Issue:
Volume 104:Issue 1(2019)
Page Start:
F18
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗