Predicting Malignancy in Pediatric Thyroid Nodules: Early Experience With Machine Learning for Clinical Decision Support

por Radebe, Lebohang, van der Kaay, Daniëlle C M, Wasserman, Jonathan D, Goldenberg, Anna
Publicado 2021

Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome

por Ciancia, Silvia, Goedegebuure, Wesley J., Grootjen, Lionne N., Hokken-Koelega, Anita C. S., Kerkhof, Gerthe F., van der Kaay, Daniëlle C. M.
Publicado 2023

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

por Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Publicado 2020

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

por van Heerwaarde, Alise A, Klomberg, Renz C W, van Ravenswaaij-Arts, Conny M A, Ploos van Amstel, Hans Kristian, Toekoen, Aartie, Jessurun, Fariza, Garg, Abhimanyu, van der Kaay, Daniëlle C M
Publicado 2021

Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome

por Bindels-de Heus, Karen G. C. B., Hagenaar, Doesjka A, Dekker, Ilonka, van der Kaay, Danielle C. M., Kerkhof, Gerthe F., Elgersma, Ype, de Wit, Marie-Claire Y., Mous, Sabine E., Moll, Henriette A.
Publicado 2023

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

por Lauffer, Peter, Boudin, Eveline, van der Kaay, Daniëlle C M, Koene, Saskia, van Haeringen, Arie, van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C R, Mortier, Geert, Espiner, Eric A, van Duyvenvoorde, Hermine A
Publicado 2022

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

por Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith-Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J. G. T., van der Kaay, Daniëlle C. M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M. S.
Publicado 2023