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M Marcelis

Showing results (211-220 of 223) with videos related to

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The New England Journal of Medicine|October 4, 2013
PLS3 mutations in X-linked osteoporosis with fracturesFleur S van Dijk, M Carola Zillikens, Dimitra Micha, et al.
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
Birth Defects Research|April 23, 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control studyRomy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, et al.
Pediatric Research|September 10, 2019
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyRomy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal DevelopmentJohanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 7, 2016
AGORA, a data- and biobank for birth defects and childhood cancerIris A L M van Rooij, Loes F M van der Zanden, Ernie M H F Bongers, et al.
Communications Biology|November 9, 2022
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophyEnrico Mingardo, Glenda Beaman, Philip Grote, et al.
Pageof 23

Showing results (211-220 of 223) with videos related to

Sort By:
Pageof 23
The New England Journal of Medicine|October 4, 2013
PLS3 mutations in X-linked osteoporosis with fracturesFleur S van Dijk, M Carola Zillikens, Dimitra Micha, et al.
Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.
American Journal of Human Genetics|February 3, 2016
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsMargot R F Reijnders, Vasilios Zachariadis, Brooke Latour, et al.
Birth Defects Research|April 23, 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control studyRomy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, et al.
Pediatric Research|September 10, 2019
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyRomy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal DevelopmentJohanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 7, 2016
AGORA, a data- and biobank for birth defects and childhood cancerIris A L M van Rooij, Loes F M van der Zanden, Ernie M H F Bongers, et al.
Communications Biology|November 9, 2022
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophyEnrico Mingardo, Glenda Beaman, Philip Grote, et al.
Pageof 23