Ciliary disturbances in syndromal and non-syndromal obesity

by de Vries, Tamar I., van Haelst, Mieke M.
Published in J Pediatr Genet (2014)

Young adult with Cantú syndrome: dealing with a rare genetic skin disorder

by Roessler, Helen I, van Haaften, Gijs, van Haelst, Mieke M
Published in BMJ Case Rep (2021)

Young girl with severe early-onset obesity and hyperphagia

by Kleinendorst, Lotte, van Haelst, Mieke M, van den Akker, Erica L T
Published in BMJ Case Rep (2017)

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

by Verberne, Eline A., Dalen Meurs, Lotje, Wolf, Nicole I., van Haelst, Mieke M.
Published in Am J Med Genet A (2020)

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

by Kleinendorst, Lotte, van den Heuvel, Lieke M., Henneman, Lidewij, van Haelst, Mieke M.
Published in Eur J Hum Genet (2020)

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

by Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.
Published in Am J Med Genet A (2020)

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

by Coban, Mathew A., Blackburn, Patrick R., Whitelaw, Murray L., van Haelst, Mieke M., Atwal, Paldeep S., Caulfield, Thomas R.
Published in Biomolecules (2020)

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation

by Cooiman, Mellody I., Kleinendorst, Lotte, van der Zwaag, Bert, Janssen, Ignace M. C., Berends, Frits J., van Haelst, Mieke M.
Published in Mol Genet Genomic Med (2019)

Further confirmation of the MED13L haploinsufficiency syndrome

by van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs
Published in Eur J Hum Genet (2015)

Three‐dimensional facial morphology in Cantú syndrome

by Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Published in Am J Med Genet A (2020)

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

by Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Published in Case Rep Genet (2016)

Clinical utility gene card for: Cantú syndrome

by Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K
Published in Eur J Hum Genet (2017)

Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74

by Kleinendorst, Lotte, Alsters, Sanne I. M., Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M. J., van den Akker, Erica L. T., van Haelst, Mieke M.
Published in Eur J Hum Genet (2020)

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

by Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M. C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., van Haelst, Mieke M., van Haaften, Gijs, Bakkers, Jeroen
Published in Dis Model Mech (2018)

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity

by Savas, Mesut, Wester, Vincent L., Visser, Jenny A., Kleinendorst, Lotte, van der Zwaag, Bert, van Haelst, Mieke M., van den Akker, Erica L.T., van Rossum, Elisabeth F.C.
Published in Obes Facts (2019)

A comprehensive diagnostic approach to detect underlying causes of obesity in adults

by van der Valk, Eline S., van den Akker, Erica L.T., Savas, Mesut, Kleinendorst, Lotte, Visser, Jenny A., Van Haelst, Mieke M., Sharma, Arya M., van Rossum, Elisabeth F.C.
Published in Obes Rev (2019)

Clinical and community genetics services in the Dutch Caribbean

by Verberne, Eline A., Ecury-Goossen, Ginette M., Manshande, Meindert E., Ponson-Wever, Maria, de Vroomen, Maartje, Tilanus, Martijn, Mannens, Marcel M. A. M., Henneman, Lidewij, van Haelst, Mieke M.
Published in J Community Genet (2021)

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

by de Vries, Tamar I, R Monroe, Glen, van Belzen, Martine J, van der Lans, Christian A, Savelberg, Sanne MC, Newman, William G, van Haaften, Gijs, Nievelstein, Rutger A, van Haelst, Mieke M
Published in Eur J Hum Genet (2016)

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

by Vos, Niels, Oussaada, Sabrina M., Cooiman, Mellody I., Kleinendorst, Lotte, ter Horst, Kasper W., Hazebroek, Eric J., Romijn, Johannes A., Serlie, Mireille J., Mannens, Marcel M. A. M., van Haelst, Mieke M.
Published in Curr Diab Rep (2020)

Effects of Glucagon-Like-Peptide-1 Analogue Treatment in Genetic Obesity

by Welling, Mila Sofie, de Groot, Cornelis J, Kleinendorst, Lotte, van der Voorn, Bibian, Burgerhart, Jan Steven, van der Valk, Eline S, van Haelst, Mieke M, van den Akker, Erica L T, van Rossum, Elisabeth F C
Published in J Endocr Soc (2021)