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Author/Creator de Leeuw, Nicole

2. A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. (30th March 2014)

Authors:
Zada, Almira; Mundhofir, Farmaditya E. P.; Pfundt, Rolph; Leijsten, Nico; Nillesen, Willy; Faradz, Sultana M. H.; de Leeuw, Nicole
Other Names:
López Ginés C. Academic Editor.; Perez de Nanclares G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2014(2014)
Page Start:
Record Type:
Journal Article
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3. 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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4. Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration. Issue 6 (7th September 2022)

Authors:
Correia‐Costa, Gabriela Roldão; de Leeuw, Nicole; Pfundt, Rolph; Sgardioli, Ilária Cristina; dos Santos, Ana Paula; de Lima Santos, Marilza; Gil‐da‐Silva‐Lopes, Vera Lúcia; Vieira, Társis Paiva
Journal:
Clinical genetics
Issue:
Volume 102:Issue 6(2022)
Page Start:
537
Record Type:
Journal Article
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5. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Issue 6 (4th March 2011)

Authors:
Arts, Heleen H; Bongers, Ernie M H F; Mans, Dorus A; van Beersum, Sylvia E C; Oud, Machteld M; Bolat, Emine; Spruijt, Liesbeth; Cornelissen, Elisabeth A M; Schuurs-Hoeijmakers, Janneke H M; de Leeuw, Nicole; Cormier-Daire, Valérie; Brunner, Han G; Knoers, Nine V A M; Roepman, Ronald
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 6(2011)
Page Start:
390
Record Type:
Journal Article
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6. Central 22q11.2 deletions. Issue 11 (14th August 2014)

Authors:
Rump, Patrick; de Leeuw, Nicole; van Essen, Anthonie J.; Verschuuren‐Bemelmans, Corien C.; Veenstra‐Knol, Hermine E.; Swinkels, Mariëlle E.M.; Oostdijk, Wilma; Ruivenkamp, Claudia; Reardon, Willie; de Munnik, Sonja; Ruiter, Mariken; Frumkin, Ayala; Lev, Dorit; Evers, Christina; Sikkema‐Raddatz, B...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2707
Record Type:
Journal Article
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7. Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report. Issue 6 (4th April 2019)

Authors:
Ross, Jamila; Fennis, Willem; de Leeuw, Nicole; Cune, Marco; Willemze, Annemieke; Rosenberg, Antoine; Ploos van Amstel, Hans‐Kristian; Créton, Marijn; van den Boogaard, Marie‐José
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 6(2019)
Page Start:
n/a
Record Type:
Journal Article
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8. De novo copy number variants associated with intellectual disability have a paternal origin and age bias. Issue 11 (3rd October 2011)

Authors:
Hehir-Kwa, Jayne Y; Rodríguez-Santiago, Benjamín; Vissers, Lisenka E; de Leeuw, Nicole; Pfundt, Rolph; Buitelaar, Jan K; Pérez-Jurado, Luis A; Veltman, Joris A
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 11(2011)
Page Start:
776
Record Type:
Journal Article
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10. Early presentation of cystic kidneys in a family with a homozygous INVS mutation. Issue 7 (26th March 2014)

Authors:
Oud, Machteld M.; van Bon, Bregje W.; Bongers, Ernie M. H. F.; Hoischen, Alexander; Marcelis, Carlo L.; de Leeuw, Nicole; Mol, Suzanne J. J.; Mortier, Geert; Knoers, Nine V. A. M.; Brunner, Han G.; Roepman, Ronald; Arts, Heleen H.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1627
Record Type:
Journal Article
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