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Author/Creator Douben, Hannie

1. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome. (November 2018)

Authors:
Potuijt, Jacob; Baas, Martijn; Sukenik-Halevy, Rivka; Douben, Hannie; Nguyen, Picard; Venter, Deon; Gallagher, Renée; Swagemakers, Sigrid; Hovius, Steven; van Nieuwenhoven, Christianne; Galjaard, Robert-Jan; van der Spek, Peter; Ahituv, Nadav; de Klein, Annelies
Journal:
Genetics in medicine
Issue:
Volume 20:Number 11(2018)
Page Start:
1405
Record Type:
Journal Article
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2. An Acute Cellular Rejection With Detrimental Outcome Occurring Under Belatacept-Based Immunosuppressive Therapy: An Immunological Analysis. Issue 5 (May 2016)

Authors:
de Graav, Gretchen N.; Hesselink, Dennis A.; Dieterich, Marjolein; Kraaijeveld, Rens; Douben, Hannie; de Klein, Annelies; Roelen, Dave L.; Weimar, Willem; Roodnat, Joke I.; Clahsen-van Groningen, Marian C.; Baan, Carla C.
Journal:
Transplantation
Issue:
Volume 100:Issue 5(2016)
Page Start:
Record Type:
Journal Article
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3. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. (4th February 2020)

Authors:
Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
1054
Record Type:
Journal Article
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4. Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family. Issue 8 (August 2015)

Authors:
Olgiati, Simone; Thomas, Astrid; Quadri, Marialuisa; Breedveld, Guido J.; Graafland, Josja; Eussen, Hubertus; Douben, Hannie; de Klein, Annelies; Onofrj, Marco; Bonifati, Vincenzo
Journal:
Parkinsonism & related disorders
Issue:
Volume 21:Issue 8(2015)
Page Start:
981
Record Type:
Journal Article
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5. Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family. Issue 8 (August 2015)

Authors:
Olgiati, Simone; Thomas, Astrid; Quadri, Marialuisa; Breedveld, Guido J.; Graafland, Josja; Eussen, Hubertus; Douben, Hannie; de Klein, Annelies; Onofrj, Marco; Bonifati, Vincenzo
Journal:
Parkinsonism & related disorders
Issue:
Volume 21:Issue 8(2015)
Page Start:
981
Record Type:
Journal Article
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6. Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome. (15th February 2023)

Authors:
Douben, Hannie; Hoogeveen-Westerveld, Marianne; Nellist, Mark; Louwen, Jesse; Haan, Marian Kroos-de; Punt, Mattijs; van Ommeren, Babeth; van Unen, Leontine; Elfferich, Peter; Kasteleijn, Esmee; van Bever, Yolande; van Vliet, Margreethe; Oostenbrink, Rianne; Saris, Jasper J.; Wagner, Anja; van Ier...
Other Names:
Kehrer-Sawatzki Hildegard Academic Editor.
Journal:
Human mutation
Issue:
Volume 2023(2023)
Page Start:
Record Type:
Journal Article
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