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Marieke F van Dooren

Showing results (11-20 of 33) with videos related to

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Frontiers in Pediatrics|December 13, 2021
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?Linda Gaillard, Anne Goverde, Quincy C C van den Bosch, et al.
Developmental Medicine and Child Neurology|September 10, 2020
Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocolBianca K Den Ottelander, Marie-Lise C Van Veelen, Robbin De Goederen, et al.
HGG Advances|September 29, 2025
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndromeFederico Ferraro, Nikolas Kühn, Dmitrijs Rots, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 2011
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomasEsther Korpershoek, Judith Favier, José Gaal, et al.
Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
Frontiers in Pediatrics|February 21, 2022
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing ChallengeErwin Brosens, Nina C J Peters, Kim S van Weelden, et al.
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
Cancers|January 20, 2019
Increased Mortality in <i>SDHB</i> but Not in <i>SDHD</i> Pathogenic Variant CarriersJohannes A Rijken, Leonie T van Hulsteijn, Olaf M Dekkers, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.
European Journal of Endocrinology|May 12, 2017
The phenotype of <i>SDHB</i> germline mutation carriers: a nationwide studyNicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Frontiers in Pediatrics|December 13, 2021
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?Linda Gaillard, Anne Goverde, Quincy C C van den Bosch, et al.
Developmental Medicine and Child Neurology|September 10, 2020
Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocolBianca K Den Ottelander, Marie-Lise C Van Veelen, Robbin De Goederen, et al.
HGG Advances|September 29, 2025
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndromeFederico Ferraro, Nikolas Kühn, Dmitrijs Rots, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 2011
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomasEsther Korpershoek, Judith Favier, José Gaal, et al.
Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
Frontiers in Pediatrics|February 21, 2022
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing ChallengeErwin Brosens, Nina C J Peters, Kim S van Weelden, et al.
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
Cancers|January 20, 2019
Increased Mortality in <i>SDHB</i> but Not in <i>SDHD</i> Pathogenic Variant CarriersJohannes A Rijken, Leonie T van Hulsteijn, Olaf M Dekkers, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.
European Journal of Endocrinology|May 12, 2017
The phenotype of <i>SDHB</i> germline mutation carriers: a nationwide studyNicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, et al.
Pageof 4