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Associate Professor P.M. van Hasselt

Associate Professor P.M. van Hasselt

Associate Professor - medical

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Research Output (177)

Macrocephaly and developmental delay caused by missense variants in RAB5C

Koop Klaas, Yuan Weimin, Tessadori Federico, Rodriguez-Polanco Wilmer R, Grubbs Jeremy, Zhang Bo, Osmond Matt, Graham Gail, Sawyer Sarah, Conboy Erin, Vetrini Francesco, Treat Kayla, Płoski Rafal, Pienkowski Victor Murcia, Kłosowska Anna, Fieg Elizabeth, Krier Joel, Mallebranche Coralie, Alban Ziegler, Aldinger Kimberly A, Ritter Deborah, Macnamara Ellen, Sullivan Bonnie, Herriges John, Alaimo Joseph T, Helbig Catherine, Ellis Colin A, Eyk Clare, Gecz Jozef, Farrugia Daniel, Osei-Owusu Ikeoluwa, Adès Lesley, Boogaard Marie-Jose, Fuchs Sabine, Bakker Jeroen, Duran Karen, Dawson Zachary D, Lindsey Anika, Huang Huiyan, Baldridge Dustin, Silverman Gary A, Grant Barth D, Raizen David, Network Undiagnosed Diseases, Haaften Gijs, Pak Stephen C, Rehmann Holger, Schedl Tim, van Hasselt Peter 8 Aug 2023, In: Human molecular genetics. 32 , p. 3063-3077 15 p.

A second case of glutaminase hyperactivity:Expanding the phenotype with epilepsy

Rumping Lynne, Pouwels Petra J.W., Wolf Nicole I., Rehmann Holger, Wamelink Mirjam M.C., Waisfisz Quinten, Jans Judith J.M., Prinsen Hubertus C.M.T., van de Kamp Jiddeke M., van Hasselt Peter M. May 2023, In: JIMD Reports. 64 , p. 217-222 6 p.

Development of a compounded propofol nanoemulsion using multiple non-invasive process analytical technologies

Rooimans T, Damen M, Markesteijn C M A, Schuurmans C C L, de Zoete N H C, van Hasselt P M, Hennink W E, van Nostrum C F, Hermes M, Besseling R, Vromans H 13 Apr 2023, In: International Journal of Pharmaceutics. 640

Evolutionary conservation of the fidelity of transcription

Chung Claire, Verheijen Bert M, Navapanich Zoe, McGann Eric G, Shemtov Sarah, Lai Guan-Ju, Arora Payal, Towheed Atif, Haroon Suraiya, Holczbauer Agnes, Chang Sharon, Manojlovic Zarko, Simpson Stephen, Thomas Kelley W, Kaplan Craig, van Hasselt Peter, Timmers Marc, Erie Dorothy, Chen Lin, Gout Jean-Franćois, Vermulst Marc 20 Mar 2023, In: Nature Communications. 14 , p. 1-15

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels Irena J.J., Schene Imre F., Rehmann Holger, Massink Maarten P.G., van der Wal Maria M., Bauder Corinna, Labeur Martha, Armando Natalia G., Lequin Maarten H., Houben Michiel L., Giltay Jaques C., Haitjema Saskia, Huisman Albert, Vansenne Fleur, Bluvstein Judith, Pappas John, Shailee Lala V., Zarate Yuri A., Mokry Michal, van Haaften Gijs W., Nieuwenhuis Edward E.S., Refojo Damian, van Wijk Femke, Fuchs Sabine A., van Hasselt Peter M. 5 Jan 2023, In: American Journal of Human Genetics. 110 , p. 146-160 15 p.

Isolated neurological presentations of mevalonate kinase deficiency

Hoytema van Konijnenburg Eva M.M., Oussoren Esmeralda, Frenkel Joost, van Hasselt Peter M. Jan 2023, In: JIMD Reports. 64 , p. 53-56 4 p.

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

Al-Saady Murtadha, Beerepoot Shanice, Plug Bonnie C., Breur Marjolein, Galabova Hristina, Pouwels Petra J.W., Boelens Jaap Jan, Lindemans Caroline, van Hasselt Peter M., Matzner Ulrich, Vanderver Adeline, Bugiani Marianna, van der Knaap Marjo S., Wolf Nicole I. 2023, In: Annals of Clinical and Translational Neurology. 10 , p. 1146-1159 14 p.

Metabool onderzoek bij ontwikkelingsachterstand

Koop K, Hoytema van Konijnenburg Eva, Haijes-Siepel Hanneke, van Hasselt PM 1 Sep 2022, In: Praktische Pediatrie. 16

Disorders in the transport of copper, iron, magnesium, manganese, selenium and zinc

van Hasselt Peter M., Clayton Peter T., Houwen Roderick H.J. 24 Jun 2022, p. 631-651 21 p.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria:A comparison between two genetic disorders affecting the same metabolic pathway

van Vliet Kimber, van Ginkel Willem G., Jahja Rianne, Daly Anne, MacDonald Anita, Santra Saikat, De Laet Corinne, Goyens Philippe J., Vara Roshni, Rahman Yusof, Cassiman David, Eyskens Francois, Timmer Corrie, Mumford Nicky, Gissen Paul, Bierau Jörgen, van Hasselt Peter M., Wilcox Gisela, Morris Andrew A.M., Jameson Elisabeth A., de la Parra Alicia, Arias Carolina, Garcia Maria I., Cornejo Veronica, Bosch Annet M., Hollak Carla E.M., Rubio-Gozalbo M. Estela, Brouwers Martijn C.G.J., Hofstede Floris C., de Vries Maaike C., Janssen Mirian C.H., van der Ploeg Ans T., Langendonk Janneke G., Huijbregts Stephan C.J., van Spronsen Francjan J. 20 Jun 2022, In: Journal of Inherited Metabolic Disease. 45 , p. 952-962 11 p.

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