Epidermal inclusion cyst of the thyroid: a rare case of a nodule-like structure at ultrasound

por Lauffer, Peter, van Schuppen, Joost, Mooij, Christiaan F.
Publicado 2020

Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up

por Lauffer, Peter, van Trotsenburg, A. S. Paul, Zwaveling-Soonawala, Nitash
Publicado 2021

Diagnosis and Management of Central Congenital Hypothyroidism

por Lauffer, Peter, Zwaveling-Soonawala, Nitash, Naafs, Jolanda C., Boelen, Anita, van Trotsenburg, A. S. Paul
Publicado 2021

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1(Y446C/Y446C) mutation

por Hu, Yalan, Lauffer, Peter, Stewart, Michelle, Codner, Gemma, Mayerl, Steffen, Heuer, Heike, Ng, Lily, Forrest, Douglas, van Trotsenburg, Paul, Jongejan, Aldo, Fliers, Eric, Hennekam, Raoul, Boelen, Anita
Publicado 2022

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

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

por Krzyzewska, Izabela M., Lauffer, Peter, Mul, Adri N., van der Laan, Liselot, Yim, Andrew Y. F. Li, Cobben, Jan Maarten, Niklinski, Jacek, Chomczyk, Monika A., Smigiel, Robert, Mannens, Marcel M. A. M., Henneman, Peter
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

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

por Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., Menke, Leonie A.
Publicado 2022

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

por van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L., Vissers, Lisenka E. L. M., Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J. V., Wieczorek, Dagmar, Bramswig, Nuria C., Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M., Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M. A. M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Publicado 2022