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Author/Creator den Hollander, Nicolette

1. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015)

Authors:
Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
461
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018)

Authors:
Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
788
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?. (1st September 2021)

Authors:
Srebniak, Malgorzata I.; Jehee, Fernanda S.; Joosten, Marieke; Boter, Marjan; de Valk, Walter G.; van der Helm, Robert; Sistermans, Erik A.; Voorhoeve, Els; Bhola, Shama; Hoffer, Mariette J. V.; den Hollander, Nicolette; Macville, Merryn V. E.; Van Opstal, Diane
Journal:
Acta obstetricia et gynecologica Scandinavica
Issue:
Volume 100:Number 11(2021)
Page Start:
2036
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗