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Author/Creator Schuurmans, Juliette

1. Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple‐based approach and examination of couples' views. (28th February 2019)

Authors:
Plantinga, Mirjam; Birnie, Erwin; Schuurmans, Juliette; Buitenhuis, Anne H.; Boersma, Elise; Lucassen, Anneke M.; Verkerk, Marian A.; van Langen, Irene M.; Ranchor, Adelita V.
Journal:
Prenatal diagnosis
Issue:
Volume 39:Number 5(2019)
Page Start:
369
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. International perspectives on the implementation of reproductive carrier screening. (29th November 2019)

Authors:
Delatycki, Martin B.; Alkuraya, Fowzan; Archibald, Alison; Castellani, Carlo; Cornel, Martina; Grody, Wayne W.; Henneman, Lidewij; Ioannides, Adonis S.; Kirk, Edwin; Laing, Nigel; Lucassen, Anneke; Massie, John; Schuurmans, Juliette; Thong, Meow‐Keong; van Langen, Irene; Zlotogora, Joël
Journal:
Prenatal diagnosis
Issue:
Volume 40:Number 3(2020)
Page Start:
301
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗