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Author/Creator Nijman, Isaac J

1. Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing. Issue 2 (27th October 2018)

Authors:
de Lange, Iris M; Koudijs, Marco J; van 't Slot, Ruben; Sonsma, Anja C M; Mulder, Flip; Carbo, Ellen C; van Kempen, Marjan J A; Nijman, Isaac J; Ernst, Robert F; Savelberg, Sanne M C; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 2(2019)
Page Start:
75
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. (2nd April 2015)

Authors:
Monroe, Glen R; Harakalova, Magdalena; van der Crabben, Saskia N; Majoor‐Krakauer, Danielle; Bertoli‐Avella, Aida M; Moll, Frans L; Oranen, Björn I; Dooijes, Dennis; Vink, Aryan; Knoers, Nine V; Maugeri, Alessandra; Pals, Gerard; Nijman, Isaac J; van Haaften, Gijs; Baas, Annette F
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1196
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. The molecular genetic make-up of male breast cancer. Issue 10 (October 2019)

Authors:
Moelans, Cathy B; de Ligt, Joep; van der Groep, Petra; Prins, Pjotr; Besselink, Nicolle J M; Hoogstraat, Marlous; ter Hoeve, Natalie D; Lacle, Miangela M; Kornegoor, Robert; van der Pol, Carmen C; de Leng, Wendy W J; Barbé, Ellis; van der Vegt, Bert; Martens, John; Bult, Peter; Smit, Vincent T H ...
Journal:
Endocrine-related cancer
Issue:
Volume 26:Issue 10(2019)
Page Start:
779
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗