Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Isolated neurological presentations of mevalonate kinase deficiency
Hoytema van Konijnenburg, Eva M. M., Oussoren, Esmeralda, Frenkel, Joost, van Hasselt, Peter M.
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
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Journal Article
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome
Hoytema van Konijnenburg, Eva M.M., Luirink, Ilse K., Schagen, Sebastian E.E., Engelen, Marc, Berendse, Kevin, Poll-The, Bwee Tien, Chegary, Malika
Published in Molecular genetics and metabolism reports (01.06.2020)
Published in Molecular genetics and metabolism reports (01.06.2020)
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Journal Article
Comparing policies for children of parents attending hospital emergency departments after intimate partner violence, substance abuse or suicide attempt
Hoytema van Konijnenburg, Eva M.M, Diderich, Hester M, Teeuw, Arianne H, Klein Velderman, Mariska, Oudesluys-Murphy, Anne Marie, van der Lee, Johanna H
Published in Child abuse & neglect (01.03.2016)
Published in Child abuse & neglect (01.03.2016)
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Journal Article
Prevalence of Child Sexual Abuse in Pediatric Patients With Chronic Abdominal Pain
Sonneveld, Liza P., Brilleslijper‐Kater, Sonja N., Benninga, Marc A., Konijnenburg, Eva M.M. Hoytema, Sieswerda‐Hoogendoorn, Tessa, Teeuw, Arianne H.
Published in Journal of pediatric gastroenterology and nutrition (01.05.2013)
Published in Journal of pediatric gastroenterology and nutrition (01.05.2013)
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Journal Article
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Hoytema van Konijnenburg, Eva M M, Wortmann, Saskia B, Koelewijn, Marina J, Tseng, Laura A, Houben, Roderick, Stöckler-Ipsiroglu, Sylvia, Ferreira, Carlos R, van Karnebeek, Clara D M
Published in Orphanet journal of rare diseases (12.04.2021)
Published in Orphanet journal of rare diseases (12.04.2021)
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Journal Article
Clinical Reasoning: Pediatric Seizures of Unknown Cause
Tseng, Laura A, Hoytema van Konijnenburg, Eva M M, Longo, Nicola, Andrews, Ashley, van Wegberg, Annemiek, Coene, Karlien L M, Coughlin, 2nd, Curtis R, van Karnebeek, Clara D M
Published in Neurology (14.06.2022)
Published in Neurology (14.06.2022)
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Journal Article
A Systematic Review of Instruments used to Assess Nonverbal Emotional Signs in Children during an Investigative Interview for Suspected Sexual Abuse
Ham, Kirsten, Hoytema van Konijnenburg, Eva M. M., Brilleslijper‐Kater, Sonja N., Schepers, Amber, Daams, Joost G., Teeuw, Arianne H., Rijn, Rick R., Lee, Johanna H.
Published in Child abuse review (Chichester, England : 1992) (01.01.2020)
Published in Child abuse review (Chichester, England : 1992) (01.01.2020)
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Journal Article
Data research on child abuse and neglect without informed consent? Balancing interests under Dutch law
Hoytema van Konijnenburg, Eva M. M., Teeuw, Arianne H., Ploem, M. Corrette
Published in European Journal of Pediatrics (01.12.2015)
Published in European Journal of Pediatrics (01.12.2015)
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Journal Article
Book Review
Follow‐up protocol was useful for children whose parents attended emergency departments after partner violence, substance abuse or a suicide attempt
Hoytema van Konijnenburg, Eva M. M., Gigengack, Maj, Teeuw, Arianne H., Sieswerda‐Hoogendoorn, Tessa, Brilleslijper‐Kater, Sonja N., Flapper, Boudien C., Lindauer, Ramón J. L., Goudoever, Johannes B., Lee, Johanna H., Biezeveld, Maarten H., Edelenbos, Esther, Sommeren, Pauwlina G. W., Mahdi, Ulrike, Poldervaart, Jacoba D., Sanders, Marian K., Schoonenberg, N., Vogt, Anne, Wilms, Janneke F.
Published in Acta Paediatrica (01.01.2018)
Published in Acta Paediatrica (01.01.2018)
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Journal Article
New hospital-based policy for children whose parents present at the ER due to domestic violence, substance abuse and/or a suicide attempt
Hoytema van Konijnenburg, Eva M. M., Sieswerda-Hoogendoorn, Tessa, Brilleslijper-Kater, Sonja N., van der Lee, Johanna H., Teeuw, Arianne H.
Published in European journal of pediatrics (01.02.2013)
Published in European journal of pediatrics (01.02.2013)
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