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Heleen H. Arts
Heleen H. Arts
Halifax
Compound heterozygosity
Sensenbrenner syndrome
Cranioectodermal Dysplasia
Biology
Bioinformatics
3
Papers
5
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0
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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
2021
American Journal of Medical Genetics Part A
Joanna Walczak-Sztulpa
Anna Wawrocka
Małgorzata Stańczyk
Karolina Pesz
Lech Dudarewicz
Sławomir Chrul
Ewelina Bukowska-Olech
Nina Wieczorek-Cichecka
Heleen H. Arts
Machteld M. Oud
Robert Śmigiel
Ryszard Grenda
Ewa Obersztyn
Krystyna H. Chrzanowska
Anna Latos-Bielenska
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Citations (1)
Compound Heterozygous IFT140 Variants in Two Polish Families With Sensenbrenner Syndrome and Early Onset End-Stage Renal Disease
2020
Orphanet Journal of Rare Diseases
Joanna Walczak-Sztulpa
Renata Posmyk
Ewelina Bukowska-Olech
Anna Wawrocka
Aleksander Jamsheer
Machteld M. Oud
Miriam Schmidts
Heleen H. Arts
Anna Latos-Bielenska
Anna Wasilewska
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Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
2020
American Journal of Medical Genetics Part A
Joanna Walczak-Sztulpa
Anna Wawrocka
Beata Leszczyńska
Boyana Mikulska
Heleen H. Arts
Ewelina Bukowska-Olech
Maria Daniel
Maciej R. Krawczynski
Anna Latos-Bielenska
Ewa Obersztyn
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Citations (2)
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