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recordid: cdi_narcis_primary_um_oai_cris_maastrichtuniversity_nl_publications_0cb43a4a_c89a_489f_8ec6_f0ec69ece726
title: De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
format: Article
creator:
  • Reijnders, Margot R. F
  • Zachariadis, Vasilios
  • Latour, Brooke
  • Jolly, Lachlan
  • Mancini, Grazia M
  • Pfundt, Rolph
  • Wu, Ka Man
  • van Ravenswaaij-Arts, Conny M. A
  • Veenstra-Knol, Hermine E
  • Anderlid, Britt-Marie M
  • Wood, Stephen A
  • Cheung, Sau Wai
  • Barnicoat, Angela
  • Probst, Frank
  • Magoulas, Pilar
  • Brooks, Alice S
  • Malmgren, Helena
  • Harila-Saari, Arja
  • Marcelis, Carlo M
  • Vreeburg, Maaike
  • Hobson, Emma
  • Sutton, V. Reid
  • Stark, Zornitza
  • Vogt, Julie
  • Cooper, Nicola
  • Lim, Jiin Ying
  • Price, Sue
  • Lai, Angeline Hwei Meeng
  • Domingo, Deepti
  • Reversade, Bruno
  • Gecz, Jozef
  • Gilissen, Christian
  • Brunner, Han G
  • Kini, Usha
  • Roepman, Ronald
  • Nordgren, Ann
  • Kleefstra, Tjitske
ispartof: American journal of human genetics, 2016, Vol.98 (2), p.373-381
description:
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleDe Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
sourceAlma/SFX Local Collection
creatorReijnders, Margot R. F ; Zachariadis, Vasilios ; Latour, Brooke ; Jolly, Lachlan ; Mancini, Grazia M ; Pfundt, Rolph ; Wu, Ka Man ; van Ravenswaaij-Arts, Conny M. A ; Veenstra-Knol, Hermine E ; Anderlid, Britt-Marie M ; Wood, Stephen A ; Cheung, Sau Wai ; Barnicoat, Angela ; Probst, Frank ; Magoulas, Pilar ; Brooks, Alice S ; Malmgren, Helena ; Harila-Saari, Arja ; Marcelis, Carlo M ; Vreeburg, Maaike ; Hobson, Emma ; Sutton, V. Reid ; Stark, Zornitza ; Vogt, Julie ; Cooper, Nicola ; Lim, Jiin Ying ; Price, Sue ; Lai, Angeline Hwei Meeng ; Domingo, Deepti ; Reversade, Bruno ; Gecz, Jozef ; Gilissen, Christian ; Brunner, Han G ; Kini, Usha ; Roepman, Ronald ; Nordgren, Ann ; Kleefstra, Tjitske
creatorcontribReijnders, Margot R. F ; Zachariadis, Vasilios ; Latour, Brooke ; Jolly, Lachlan ; Mancini, Grazia M ; Pfundt, Rolph ; Wu, Ka Man ; van Ravenswaaij-Arts, Conny M. A ; Veenstra-Knol, Hermine E ; Anderlid, Britt-Marie M ; Wood, Stephen A ; Cheung, Sau Wai ; Barnicoat, Angela ; Probst, Frank ; Magoulas, Pilar ; Brooks, Alice S ; Malmgren, Helena ; Harila-Saari, Arja ; Marcelis, Carlo M ; Vreeburg, Maaike ; Hobson, Emma ; Sutton, V. Reid ; Stark, Zornitza ; Vogt, Julie ; Cooper, Nicola ; Lim, Jiin Ying ; Price, Sue ; Lai, Angeline Hwei Meeng ; Domingo, Deepti ; Reversade, Bruno ; Gecz, Jozef ; Gilissen, Christian ; Brunner, Han G ; Kini, Usha ; Roepman, Ronald ; Nordgren, Ann ; Kleefstra, Tjitske
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11Cheung, Sau Wai
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14Magoulas, Pilar
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16Malmgren, Helena
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18Marcelis, Carlo M
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20Hobson, Emma
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30Gecz, Jozef
31Gilissen, Christian
32Brunner, Han G
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34Roepman, Ronald
35Nordgren, Ann
36Kleefstra, Tjitske
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1Zachariadis, Vasilios
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6Wu, Ka Man
7van Ravenswaaij-Arts, Conny M. A
8Veenstra-Knol, Hermine E
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11Cheung, Sau Wai
12Barnicoat, Angela
13Probst, Frank
14Magoulas, Pilar
15Brooks, Alice S
16Malmgren, Helena
17Harila-Saari, Arja
18Marcelis, Carlo M
19Vreeburg, Maaike
20Hobson, Emma
21Sutton, V. Reid
22Stark, Zornitza
23Vogt, Julie
24Cooper, Nicola
25Lim, Jiin Ying
26Price, Sue
27Lai, Angeline Hwei Meeng
28Domingo, Deepti
29Reversade, Bruno
30Gecz, Jozef
31Gilissen, Christian
32Brunner, Han G
33Kini, Usha
34Roepman, Ronald
35Nordgren, Ann
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titleDe Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
authorReijnders, Margot R. F ; Zachariadis, Vasilios ; Latour, Brooke ; Jolly, Lachlan ; Mancini, Grazia M ; Pfundt, Rolph ; Wu, Ka Man ; van Ravenswaaij-Arts, Conny M. A ; Veenstra-Knol, Hermine E ; Anderlid, Britt-Marie M ; Wood, Stephen A ; Cheung, Sau Wai ; Barnicoat, Angela ; Probst, Frank ; Magoulas, Pilar ; Brooks, Alice S ; Malmgren, Helena ; Harila-Saari, Arja ; Marcelis, Carlo M ; Vreeburg, Maaike ; Hobson, Emma ; Sutton, V. Reid ; Stark, Zornitza ; Vogt, Julie ; Cooper, Nicola ; Lim, Jiin Ying ; Price, Sue ; Lai, Angeline Hwei Meeng ; Domingo, Deepti ; Reversade, Bruno ; Gecz, Jozef ; Gilissen, Christian ; Brunner, Han G ; Kini, Usha ; Roepman, Ronald ; Nordgren, Ann ; Kleefstra, Tjitske
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6Wu, Ka Man
7van Ravenswaaij-Arts, Conny M. A
8Veenstra-Knol, Hermine E
9Anderlid, Britt-Marie M
10Wood, Stephen A
11Cheung, Sau Wai
12Barnicoat, Angela
13Probst, Frank
14Magoulas, Pilar
15Brooks, Alice S
16Malmgren, Helena
17Harila-Saari, Arja
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21Sutton, V. Reid
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24Cooper, Nicola
25Lim, Jiin Ying
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29Reversade, Bruno
30Gecz, Jozef
31Gilissen, Christian
32Brunner, Han G
33Kini, Usha
34Roepman, Ronald
35Nordgren, Ann
36Kleefstra, Tjitske
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