Saskia Koene

Jan Smeitink 4 collaborations

Mirian C H Janssen 3 collaborations

Arie van Haeringen 3 collaborations

Boris Keren 3 collaborations

Edwin Spaans 2 collaborations

Julien Beyrath 2 collaborations

Peter Lauffer 2 collaborations

Monique C Haak 2 collaborations

Mio Aerden 2 collaborations

Ange-Line Bruel 2 collaborations

Bertrand Isidor 2 collaborations

Christine Francannet 2 collaborations

Pierre-Yves Maillard 2 collaborations

Sophie Julia 2 collaborations

Elise Schaefer 2 collaborations

Claudia Ruivenkamp 2 collaborations

Eric Legius 2 collaborations

Miel Theunis 2 collaborations

Mala Misra-Isrie 2 collaborations

Quinten Waisfisz 2 collaborations

Dagmar Wieczorek 2 collaborations

Theresia Herget 2 collaborations

Nuria C Bramswig 2 collaborations

Fernando Santos-Simarro 2 collaborations

Pernille M Tørring 2 collaborations

Hilde Van Esch 2 collaborations

Jeroen Knijnenburg 2 collaborations

Mariette J V Hoffer 2 collaborations

Gijs W E Santen 2 collaborations

Claudia A L Ruivenkamp 2 collaborations

Paul de Laat 1 collaboration

Pleun Hemelaar 1 collaboration

Peter Pickkers 1 collaboration

Rypko Beukema 1 collaboration

Jan Groothuis 1 collaboration

Chris Verhaak 1 collaboration

Karlijn Bouman 1 collaboration

Jan T Groothuis 1 collaboration

Jonne Doorduin 1 collaboration

Nens van Alfen 1 collaboration

Floris E A Udink Ten Cate 1 collaboration

Frederik M A van den Heuvel 1 collaboration

Robin Nijveldt 1 collaboration

Willem C M van Tilburg 1 collaboration

Stan C F M Buckens 1 collaboration

Anne T M Dittrich 1 collaboration

Jos M T Draaisma 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Esmee S B van Kleef 1 collaboration

Jan A M Smeitink 1 collaboration

Benno Küsters 1 collaboration

Florence H J van Tienen 1 collaboration

Hubert J M Smeets 1 collaboration

Baziel G M van Engelen 1 collaboration

Corrie E Erasmus 1 collaboration

Nicol C Voermans 1 collaboration

Eveline Boudin 1 collaboration

Daniëlle C M van der Kaay 1 collaboration

Vera van Tellingen 1 collaboration

Wim Van Hul 1 collaboration

Timothy C R Prickett 1 collaboration

Geert Mortier 1 collaboration

Eric A Espiner 1 collaboration

Hermine A van Duyvenvoorde 1 collaboration

Snežana Hinić 1 collaboration

Rachel S van der Post 1 collaboration

Lilian Vreede 1 collaboration

Janneke Schuurs-Hoeijmakers 1 collaboration

Erik A M Jansen 1 collaboration

Franziska Bervoets-Metge 1 collaboration

Arjen R Mensenkamp 1 collaboration

Nicoline Hoogerbrugge 1 collaboration

Marjolijn J L Ligtenberg 1 collaboration

Richarda M de Voer 1 collaboration

Lisca Florence Wurfbain 1 collaboration

Inge Lucia Cox 1 collaboration

Maria Francisca van Dooren 1 collaboration

Augusta Maria Antonia Lachmeijer 1 collaboration

Virginie Johanna Maria Verhoeven 1 collaboration

Johanna Maria van Hagen 1 collaboration

Malou Heijligers 1 collaboration

Jolien Sietske Klein Wassink-Ruiter 1 collaboration

Saskia Mariska Maas 1 collaboration

Hermine Elisabeth Veenstra-Knol 1 collaboration

Johannes Kristian Ploos van Amstel 1 collaboration

Maarten Pieter Gerrit Massink 1 collaboration

Aebele Barber Mink van der Molen 1 collaboration

Marie-José Henriette van den Boogaard 1 collaboration

Floortje Klerx-Melis 1 collaboration

Arno Anne Willem Roest 1 collaboration

Maarten Cornelis Kleijwegt 1 collaboration

Marianne Bootsma 1 collaboration

Meike Heleen van Haeringen 1 collaboration

Claudia Antoinette Laetitia Ruivenkamp 1 collaboration

Esther Anne Rieky Nibbeling 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Dominique Bonneau 1 collaboration

Julian Delanne 1 collaboration

Bénédicte Gérard 1 collaboration

Benoît Mazel 1 collaboration

Christophe Philippe 1 collaboration

Lucile Pinson 1 collaboration

Clément Prouteau 1 collaboration

Audrey Putoux 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Éléonore Viora-Dupont 1 collaboration

Antonio Vitobello 1 collaboration

Alban Ziegler 1 collaboration

Amélie Piton 1 collaboration

Anais Philippe 1 collaboration

Mariette Hoffer 1 collaboration

Julien Buratti 1 collaboration

Perrine Charles 1 collaboration

Thomas Courtin 1 collaboration

Mieke van Haelst 1 collaboration

Ariane Schmetz 1 collaboration

Fanny Kortüm 1 collaboration

Jasmin Lisfeld 1 collaboration

François-Guillaume Debray 1 collaboration

Isis Atallah 1 collaboration

Heidi Fodstad 1 collaboration

Guillaume Jouret 1 collaboration

Berta Almoguera 1 collaboration

Saoud Tahsin-Swafiri 1 collaboration

Maria Palomares-Bralo 1 collaboration

Vanesa López-González 1 collaboration

Maria Kibaek 1 collaboration

Alessandra Renieri 1 collaboration

Lucia Pia Bruno 1 collaboration

Katrin Õunap 1 collaboration

Monica Wojcik 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Peter Krawitz 1 collaboration

Laurie H Tiehuis 1 collaboration

Christiaan G J Saris 1 collaboration

Christiaan Saris 1 collaboration

Douglas Turnbull 1 collaboration

Mirian Janssen 1 collaboration

Pascal R de Vries 1 collaboration

Mariska Janssen 1 collaboration

Imelda de Groot 1 collaboration

Anjo Janssen 1 collaboration

Anna Ka-Yee Kwong 1 collaboration

Virginia Chun-Nei Wong 1 collaboration

Sheila Suet-Na Wong 1 collaboration

Vanessa Loi-Yan Chu 1 collaboration

Cheuk-Wing Fung 1 collaboration

Fleur Zwanenburg 1 collaboration

Heiko Locher 1 collaboration

Edward S A van Beelen 1 collaboration

Liselotte J C Rotteveel 1 collaboration

Federico Tessadori 1 collaboration

Karen Duran 1 collaboration

Karen Knapp 1 collaboration

Matthias Fellner 1 collaboration

None None 1 collaboration

Sarah Smithson 1 collaboration

Ana Beleza Meireles 1 collaboration

Mariet W Elting 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Catherine Nowak 1 collaboration

Jessica Douglas 1 collaboration

Anne Ronan 1 collaboration

Theresa Brunet 1 collaboration

Urania Kotzaeridou 1 collaboration

Shayna Svihovec 1 collaboration

Margarita S Saenz 1 collaboration

Isabelle Thiffault 1 collaboration

Florencia Del Viso 1 collaboration

Patrick Devine 1 collaboration

Shannon Rego 1 collaboration

Jessica Tenney 1 collaboration

Stephen P Robertson 1 collaboration

Charulata Deshpande 1 collaboration

Rolph Pfundt 1 collaboration

Nienke Verbeek 1 collaboration

Jiddeke M van de Kamp 1 collaboration

Janneke M M Weiss 1 collaboration

Anna Ruiz 1 collaboration

Elisabeth Gabau 1 collaboration

Ehud Banne 1 collaboration

Alexander Pepler 1 collaboration

Armand Bottani 1 collaboration

Sacha Laurent 1 collaboration

Michel Guipponi 1 collaboration

Emilia Bijlsma 1 collaboration

Arthur Sorlin 1 collaboration

Mary Willis 1 collaboration

Zoe Powis 1 collaboration

Thomas Smol 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Diana Baralle 1 collaboration

Estelle Colin 1 collaboration

Nicole Revencu 1 collaboration

Eduardo Calpena 1 collaboration

Andrew O M Wilkie 1 collaboration

Maya Chopra 1 collaboration

Valerie Cormier-Daire 1 collaboration

Alexandra Afenjar 1 collaboration

Marcello Niceta 1 collaboration

Alessandra Terracciano 1 collaboration

Nicola Specchio 1 collaboration

Marco Tartaglia 1 collaboration

Marlene Rio 1 collaboration

Giulia Barcia 1 collaboration

Sophie Rondeau 1 collaboration

Cindy Colson 1 collaboration

Jeroen Bakkers 1 collaboration

Peter D Mace 1 collaboration

Louise S Bicknell 1 collaboration

Gijs van Haaften 1 collaboration

Liselot van der Laan 1 collaboration

Kathleen Rooney 1 collaboration

Mariëlle Alders 1 collaboration

Raissa Relator 1 collaboration

Haley McConkey 1 collaboration

Jennifer Kerkhof 1 collaboration

Michael A Levy 1 collaboration

Matthew L Tedder 1 collaboration

Lisenka E L M Vissers 1 collaboration

Vanesa López González 1 collaboration

Anne-Sophie Denomme-Pichon 1 collaboration

Marcel M A M Mannens 1 collaboration

Bekim Sadikovic 1 collaboration

Mieke M van Haelst 1 collaboration

Peter Henneman 1 collaboration

Cacha M P C D Peeters-Scholte 1 collaboration

Linda S de Vries 1 collaboration

Phebe N Adama van Scheltema 1 collaboration

Marije E Meuwissen 1 collaboration

Sylke J Steggerda 1 collaboration

Aikaterini Vezyroglou 1 collaboration

Rhoda Akilapa 1 collaboration

Katy Barwick 1 collaboration

Catherine A Brownstein 1 collaboration

Muriel Holder-Espinasse 1 collaboration

Andrew E Fry 1 collaboration

Andrea H Németh 1 collaboration

George K Tofaris 1 collaboration

Eleanor Hay 1 collaboration

Imelda Hughes 1 collaboration

Sahar Mansour 1 collaboration

Santosh R Mordekar 1 collaboration

Miranda Splitt 1 collaboration

Peter D Turnpenny 1 collaboration

Demetria Demetriou 1 collaboration

Tamara T Koopmann 1 collaboration

Pankaj B Agrawal 1 collaboration

Lucinda Carr 1 collaboration

Virginia Clowes 1 collaboration

Neeti Ghali 1 collaboration

Susan Elizabeth Holder 1 collaboration

Jessica Radley 1 collaboration

Alison Male 1 collaboration

Sanjay M Sisodiya 1 collaboration

Manju A Kurian 1 collaboration

J Helen Cross 1 collaboration

Meena Balasubramanian 1 collaboration

Marieke Lindenschot 1 collaboration

Imelda J M de Groot 1 collaboration

Maria W G Nijhuis-van der Sanden 1 collaboration

Esther M J Steultjens 1 collaboration

Maud J L Graff 1 collaboration

Affiliations

Publications (17)

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

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

The genomic landscape of breast- and non-breast cancers from individuals with germline CHEK2-deficiency.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Mitochondrial migraine; a prevalence, impact and treatment efficacy cohort study.

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients.

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Episignature Mapping of

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

The Phenotypic Continuum of

Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges.

Réseau de co-auteurs