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Author/Creator Stevens, Servi J. C.

1. All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience. (5th February 2023)

Authors:
Faas, Brigitte H. W.; Westra, Dineke; de Munnik, Sonja A.; van Rij, Maartje; Marcelis, Carlo; Joosten, Sara; Krapels, Ingrid; Vernimmen, Vivian; Heijligers, Malou; Willemsen, Marjolein H.; de Leeuw, Nicole; Rinne, Tuula; Pfundt, Rolph; Smeekens, Sanne P.; Stegmann, Sander P. A.; Macville, Merryn;...
Journal:
Prenatal diagnosis
Issue:
Volume 43:Number 4(2023)
Page Start:
527
Record Type:
Journal Article
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2. Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome. Issue 12 (19th October 2017)

Authors:
van Amen‐Hellebrekers, Claudia J. M.; Jansen, Sandra; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Pfundt, Rolph; de Vries, Bert B. A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 12(2017)
Page Start:
3238
Record Type:
Journal Article
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3. Mutations in RPSA and NKX2‐3 link development of the spleen and intestinal vasculature. Issue 1 (23rd September 2019)

Authors:
Kerkhofs, Chantal; Stevens, Servi J. C.; Faust, Saul N.; Rae, William; Williams, Anthony P.; Wurm, Peter; Østern, Rune; Fockens, Paul; Würfel, Christiane; Laass, Martin; Kokke, Freddy; Stegmann, Alexander P. A.; Brunner, Han G.
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
196
Record Type:
Journal Article
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4. 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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5. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Issue 2 (28th October 2021)

Authors:
Stevens, Servi J. C.; Stumpel, Constance T. R. M.; Diderich, Karin E. M.; van Slegtenhorst, Marjon A.; Abbott, Mary‐Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C.; Leonard, Jacqueline; Murrell, Jill R.; van de Putte, Romy; van Rooij, Iris A. L. M.; Hoischen, Alexander; Lasko, Paul...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 2(2022)
Page Start:
183
Record Type:
Journal Article
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6. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Issue 3 (24th March 2018)

Authors:
van der Schoot, Vyne; de Munnik, Sonja; Venselaar, Hanka; Elting, Mariet; Mancini, Grazia M. S.; Ravenswaaij‐Arts, Conny M. A.; Anderlid, Britt‐Marie; Brunner, Han G.; Stevens, Servi J. C.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 6:Issue 3(2018)
Page Start:
393
Record Type:
Journal Article
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