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Author/Creator Sikkema-Raddatz, Birgit

1. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013)

Authors:
Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 3(2013)
Page Start:
174
Record Type:
Journal Article
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2. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. Issue 1 (December 2015)

Authors:
Rump, Patrick; Jazayeri, Omid; van Dijk-Bos, Krista; Johansson, Lennart; van Essen, Anthonie; Verheij, Johanna; Veenstra-Knol, Hermine; Redeker, Egbert; Mannens, Marcel; Swertz, Morris; Alizadeh, Behrooz; van Ravenswaaij-Arts, Conny; Sinke, Richard; Sikkema-Raddatz, Birgit
Journal:
BMC medical genomics
Issue:
Volume 9:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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3. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development. Issue 9 (17th April 2020)

Authors:
Bever, Yolande van; Brüggenwirth, Hennie T; Wolffenbuttel, Katja P; Dessens, Arianne B; Groenenberg, Irene A L; Knapen, Maarten F C M; De Baere, Elfride; Cools, Martine; van Ravenswaaij-Arts, Conny M A; Sikkema-Raddatz, Birgit; Claahsen-van der Grinten, Hedi; Kempers, Marlies; Rinne, Tuula; Hersm...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 9(2020)
Page Start:
581
Record Type:
Journal Article
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4. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. Issue 8 (16th April 2013)

Authors:
Kerstjens-Frederikse, Wilhelmina S; Bongers, Ernie M H F; Roofthooft, Marcus T R; Leter, Edward M; Douwes, J Menno; Van Dijk, Arie; Vonk-Noordegraaf, Anton; Dijk-Bos, Krista K; Hoefsloot, Lies H; Hoendermis, Elke S; Gille, Johan J P; Sikkema-Raddatz, Birgit; Hofstra, Robert M W; Berger, Rolf M F
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
500
Record Type:
Journal Article
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5. Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification. (1st July 2018)

Authors:
Alimohamed, Mohamed Z; Johansson, Lennart F; de Boer, Eddy N; Splinter, Erik; Klous, Petra; Yilmaz, Mehmet; Bosga, Anneke; van Min, Max; Mulder, André B; Vellenga, Edo; Sinke, Richard J; Sijmons, Rolf H; van den Berg, Eva; Sikkema-Raddatz, Birgit
Journal:
Clinical chemistry
Issue:
Volume 64:Number 7(2018)
Page Start:
1096
Record Type:
Journal Article
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6. Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies–RANKING. (1st December 2020)

Authors:
de Lange, Kim; de Boer, Eddy N; Bosga, Anneke; Alimohamed, Mohamed Z; Johansson, Lennart F; Mulder, André B; Vellenga, Edo; van Diemen, Cleo C; Deelen, Patrick; van den Berg, Eva; Sikkema-Raddatz, Birgit
Journal:
Clinical chemistry
Issue:
Volume 66:Number 12(2020)
Page Start:
1521
Record Type:
Journal Article
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7. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients. (1st June 2021)

Authors:
Alimohamed, Mohamed Z.; Johansson, Lennart F.; Posafalvi, Anna; Boven, Ludolf G.; van Dijk, Krista K.; Walters, Lisa; Vos, Yvonne J.; Westers, Helga; Hoedemaekers, Yvonne M.; Sinke, Richard J.; Sijmons, Rolf H.; Sikkema-Raddatz, Birgit; Jongbloed, Jan D.H.; van der Zwaag, Paul A.
Journal:
International journal of cardiology
Issue:
Volume 332(2021)
Page Start:
99
Record Type:
Journal Article
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10. Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. (2nd February 2023)

Authors:
Ghorbani, Fatemeh; de Boer, Eddy N.; Benjamins-Stok, Marloes; Verschuuren-Bemelmans, Corien C.; Knapper, Jurjen; de Boer-Bergsma, Jelkje; de Vries, Jeroen J.; Sikkema-Raddatz, Birgit; Verbeek, Dineke S.; Westers, Helga; van Diemen, Cleo C.
Journal:
Neurology
Issue:
Volume 9:Number 1(2023)
Page Start:
Record Type:
Journal Article
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