Mieke M van Haelst (Mieke van Haelst)

Publication Activity (10 Years)

Years Active: 2013-2024
Publications (10 Years): 14

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

European journal of human genetics : EJHG

Obesity (Silver Spring, Md.)

This page only lists publications with an associated author ORCID identifier.

Publications

Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature. European journal of human genetics : EJHG 32 (4) (2024)
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature. European journal of human genetics : EJHG (2024)
Mila S Welling, Mostafa Mohseni, Renate E H Meeusen, Cornelis J de Groot, Mariëtte R Boon, Lotte Kleinendorst, Jenny A Visser, Mieke M van Haelst, Erica L T van den Akker, Elisabeth F C van Rossum
Clinical phenotypes of adults with monogenic and syndromic genetic obesity. Obesity (Silver Spring, Md.) (2024)
Mila S Welling, Mostafa Mohseni, Renate E H Meeusen, Cornelis J de Groot, Mariëtte R Boon, Lotte Kleinendorst, Jenny A Visser, Mieke M van Haelst, Erica L T van den Akker, Elisabeth F C van Rossum
Clinical phenotypes of adults with monogenic and syndromic genetic obesity. Obesity (Silver Spring, Md.) 32 (7) (2024)
Hélène Dollfus, Marc R Lilien, Pietro Maffei, Alain Verloes, Jean Muller, Giacomo Maria Bacci, Metin Cetiner, Erica L T van den Akker, Monika Grudzinska Pechhacker, Francesco Testa, Didier Lacombe, Marijn F Stokman, Francesca Simonelli, Aurélie Gouronc, Amélie Gavard, Mieke M van Haelst, Jens König, Sylvie Rossignol, Carsten Bergmann, Miriam Zacchia, Bart Peter Leroy, Héléna Mosbah, Albertien M Van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou, Diana Valverde
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. European journal of human genetics : EJHG (2024)
Mila S Welling, Mostafa Mohseni, Renate E H Meeusen, Cornelis J de Groot, Mariëtte R Boon, Lotte Kleinendorst, Jenny A Visser, Mieke M van Haelst, Erica L T van den Akker, Elisabeth F C van Rossum
Clinical phenotypes of adults with monogenic and syndromic genetic obesity. Obesity (Silver Spring, Md.) 32 (7) (2024)
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature. European journal of human genetics : EJHG 32 (4) (2024)
Amarens Hoogenboom, Farah A Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M van Haelst
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature. European journal of human genetics : EJHG 32 (4) (2024)
Niels Vos, Lotte Kleinendorst, Liselot van der Laan, Jorrit van Uhm, Philip R Jansen, Agnies M van Eeghen, Saskia M Maas, Marcel M A M Mannens, Mieke M van Haelst
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options. European journal of human genetics : EJHG (2024)
Mio Aerden, Anne Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette J V Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke M van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. European journal of human genetics : EJHG (2023)
Eline A Verberne, Lieke M van den Heuvel, Maria Ponson-Wever, Maartje de Vroomen, Meindert E Manshande, Sonja Faries, Ginette M Ecury-Goossen, Lidewij Henneman, Mieke M van Haelst
Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents. European journal of human genetics : EJHG 30 (5) (2022)
Lynne Rumping, Raoul C M Hennekam, Mariëlle Alders, Mieke M van Haelst
"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome. European journal of human genetics : EJHG (2022)
Jian Gao, Conor McClenaghan, Imke Christiaans, Marielle Alders, Kirsten van Duinen, Mieke M van Haelst, Gijs van Haaften, Colin G Nichols
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9. European journal of human genetics : EJHG (2022)
Tamar I de Vries, Glen R Monroe, Martine J van Belzen, Christian A van der Lans, Sanne Mc Savelberg, William G Newman, Gijs van Haaften, Rutger A Nievelstein, Mieke M van Haelst
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. European journal of human genetics : EJHG 24 (9) (2016)
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje W M van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa L E van Loon, Eric E J Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J J Maal, Celeste C van Heumen, Helger G Yntema, Carine E L Carels, Tjitske Kleefstra
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European journal of human genetics : EJHG 23 (9) (2014)
Sarah Vergult, Ellen Van Binsbergen, Tom Sante, Silke Nowak, Olivier Vanakker, Kathleen Claes, Bruce Poppe, Nathalie Van der Aa, Markus J van Roosmalen, Karen Duran, Masoumeh Tavakoli-Yaraki, Marielle Swinkels, Marie-José van den Boogaard, Mieke M van Haelst, Filip Roelens, Frank Speleman, Edwin Cuppen, Geert Mortier, Wigard P Kloosterman, Björn Menten
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations. European journal of human genetics : EJHG 22 (5) (2013)