Judith Jans

Affiliations

Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.
United for Metabolic Diseases, The Netherlands.

Publications (6)

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Brain : a journal of neurology

Avec: Devon L Johnstone , Hilal H Al-Shekaili , Maja Tarailo-Graovac , Nicole I Wolf , Autumn S Ivy , Scott Demarest , Yann Roussel , Jolita Ciapaite , Carlo W T van Roermund , Kristin D Kernohan , Ceres Kosuta , Kevin Ban , Yoko Ito , Skye McBride , Khalid Al-Thihli , Rana A Abdelrahim , Roshan Koul , Amna Al Futaisi , Charlotte A Haaxma , Heather Olson , Laufey Yr Sigurdardottir , Georgianne L Arnold , Erica H Gerkes , M Boon , M Rebecca Heiner-Fokkema , Sandra Noble , Marjolein Bosma , Judith Jans , David A Koolen , Erik-Jan Kamsteeg , Britt Drögemöller , Colin J Ross , Jacek Majewski , Megan T Cho , Amber Begtrup , Wyeth W Wasserman , Tuan Bui , Elise Brimble , Sara Violante , Sander M Houten , Ron A Wevers , Martijn van Faassen , Ido P Kema , Nathalie Lepage , Auteur inconnu , Matthew A Lines , David A Dyment , Ronald J A Wanders , Nanda Verhoeven-Duif , Marc Ekker , Kym M Boycott , Jan M Friedman , Izabella A Pena , Clara D M van Karnebeek

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

JCI insight

Avec: Minna Pekkinen , Paulien A Terhal , Lorenzo D Botto , Petra Henning , Riikka E Mäkitie , Paul Roschger , Amrita Jain , Matthijs Kol , Matti A Kjellberg , Eleftherios P Paschalis , Koen van Gassen , Mary Murray , Pinar Bayrak-Toydemir , Maria K Magnusson , Judith Jans , Mehran Kausar , John C Carey , Pentti Somerharju , Ulf H Lerner , Vesa M Olkkonen , Klaus Klaushofer , Joost Cm Holthuis , Outi Mäkitie

Lack of Cell Cycle Inhibitor p21 and Low CD4

Frontiers in immunology

Avec: Jop Jans , Wendy W Unger , Elisabeth A M Raeven , Elles R Simonetti , Marc J Eleveld , Ronald de Groot , Marien I de Jonge , Gerben Ferwerda

Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC-MS based untargeted metabolomics practitioners.

Metabolomics : Official journal of the Metabolomic Society

Avec: Anne M Evans , Claire O'Donovan , Mary Playdon , Chris Beecher , Richard D Beger , John A Bowden , David Broadhurst , Clary B Clish , Surendra Dasari , Warwick B Dunn , Julian L Griffin , Thomas Hartung , Ping- Ching Hsu , Tao Huan , Judith Jans , Christina M Jones , Maureen Kachman , Andre Kleensang , Matthew R Lewis , María Eugenia Monge , Jonathan D Mosley , Eric Taylor , Fariba Tayyari , Georgios Theodoridis , Federico Torta , Baljit K Ubhi , Dajana Vuckovic , Auteur inconnu

Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study.

The Journal of pediatrics

Avec: Arthur Edridge , Ruth Namazzi , Andrew Tebulo , Anan Mfizi , Martin Deijs , Sylvie Koekkoek , Bob de Wever , Arie van der Ende , Jeanine Umiwana , Menno D de Jong , Judith Jans , Nanda Verhoeven-Duif , Maarten Titulaer , Clara van Karnebeek , Karl Seydel , Terrie Taylor , Brenda Asiimwe-Kateera , Lia van der Hoek , Jean-Claude Kabayiza , Macpherson Mallewa , Richard Idro , Michael Boele van Hensbroek , Job B M van Woensel

[Two children in the Netherlands with a Corynebacterium diphtheriaeinfection].

Nederlands tijdschrift voor geneeskunde

Avec: Jo-Anne Janson , Else M Bijker , Helke van Dessel , Ivar P E Gondrie , Michiel van der Flier , Jop Jans

Réseau de co-auteurs

None None 2 collaborations

Nanda Verhoeven-Duif 2 collaborations

Jop Jans 2 collaborations

Devon L Johnstone 1 collaboration

Hilal H Al-Shekaili 1 collaboration

Maja Tarailo-Graovac 1 collaboration

Nicole I Wolf 1 collaboration

Autumn S Ivy 1 collaboration

Scott Demarest 1 collaboration

Yann Roussel 1 collaboration

Jolita Ciapaite 1 collaboration

Carlo W T van Roermund 1 collaboration

Kristin D Kernohan 1 collaboration

Ceres Kosuta 1 collaboration

Kevin Ban 1 collaboration

Yoko Ito 1 collaboration

Skye McBride 1 collaboration

Khalid Al-Thihli 1 collaboration

Rana A Abdelrahim 1 collaboration

Roshan Koul 1 collaboration

Amna Al Futaisi 1 collaboration

Charlotte A Haaxma 1 collaboration

Heather Olson 1 collaboration

Laufey Yr Sigurdardottir 1 collaboration

Georgianne L Arnold 1 collaboration

Erica H Gerkes 1 collaboration

M Boon 1 collaboration

M Rebecca Heiner-Fokkema 1 collaboration

Sandra Noble 1 collaboration

Marjolein Bosma 1 collaboration

David A Koolen 1 collaboration

Erik-Jan Kamsteeg 1 collaboration

Britt Drögemöller 1 collaboration

Colin J Ross 1 collaboration

Jacek Majewski 1 collaboration

Megan T Cho 1 collaboration

Amber Begtrup 1 collaboration

Wyeth W Wasserman 1 collaboration

Tuan Bui 1 collaboration

Elise Brimble 1 collaboration

Sara Violante 1 collaboration

Sander M Houten 1 collaboration

Ron A Wevers 1 collaboration

Martijn van Faassen 1 collaboration

Ido P Kema 1 collaboration

Nathalie Lepage 1 collaboration

Matthew A Lines 1 collaboration

David A Dyment 1 collaboration

Ronald J A Wanders 1 collaboration

Marc Ekker 1 collaboration

Kym M Boycott 1 collaboration

Jan M Friedman 1 collaboration

Izabella A Pena 1 collaboration

Clara D M van Karnebeek 1 collaboration

Minna Pekkinen 1 collaboration

Paulien A Terhal 1 collaboration

Lorenzo D Botto 1 collaboration

Petra Henning 1 collaboration

Riikka E Mäkitie 1 collaboration

Paul Roschger 1 collaboration

Amrita Jain 1 collaboration

Matthijs Kol 1 collaboration

Matti A Kjellberg 1 collaboration

Eleftherios P Paschalis 1 collaboration

Koen van Gassen 1 collaboration

Mary Murray 1 collaboration

Pinar Bayrak-Toydemir 1 collaboration

Maria K Magnusson 1 collaboration

Mehran Kausar 1 collaboration

John C Carey 1 collaboration

Pentti Somerharju 1 collaboration

Ulf H Lerner 1 collaboration

Vesa M Olkkonen 1 collaboration

Klaus Klaushofer 1 collaboration

Joost Cm Holthuis 1 collaboration

Outi Mäkitie 1 collaboration

Wendy W Unger 1 collaboration

Elisabeth A M Raeven 1 collaboration

Elles R Simonetti 1 collaboration

Marc J Eleveld 1 collaboration

Ronald de Groot 1 collaboration

Marien I de Jonge 1 collaboration

Gerben Ferwerda 1 collaboration

Anne M Evans 1 collaboration

Claire O'Donovan 1 collaboration

Mary Playdon 1 collaboration

Chris Beecher 1 collaboration

Richard D Beger 1 collaboration

John A Bowden 1 collaboration

David Broadhurst 1 collaboration

Clary B Clish 1 collaboration

Surendra Dasari 1 collaboration

Warwick B Dunn 1 collaboration

Julian L Griffin 1 collaboration

Thomas Hartung 1 collaboration

Ping- Ching Hsu 1 collaboration

Tao Huan 1 collaboration

Christina M Jones 1 collaboration

Maureen Kachman 1 collaboration

Andre Kleensang 1 collaboration

Matthew R Lewis 1 collaboration

María Eugenia Monge 1 collaboration

Jonathan D Mosley 1 collaboration

Eric Taylor 1 collaboration

Fariba Tayyari 1 collaboration

Georgios Theodoridis 1 collaboration

Federico Torta 1 collaboration

Baljit K Ubhi 1 collaboration

Dajana Vuckovic 1 collaboration

Arthur Edridge 1 collaboration

Ruth Namazzi 1 collaboration

Andrew Tebulo 1 collaboration

Anan Mfizi 1 collaboration

Martin Deijs 1 collaboration

Sylvie Koekkoek 1 collaboration

Bob de Wever 1 collaboration

Arie van der Ende 1 collaboration

Jeanine Umiwana 1 collaboration

Menno D de Jong 1 collaboration

Maarten Titulaer 1 collaboration

Clara van Karnebeek 1 collaboration

Karl Seydel 1 collaboration

Terrie Taylor 1 collaboration

Brenda Asiimwe-Kateera 1 collaboration

Lia van der Hoek 1 collaboration

Jean-Claude Kabayiza 1 collaboration

Macpherson Mallewa 1 collaboration

Richard Idro 1 collaboration

Michael Boele van Hensbroek 1 collaboration

Job B M van Woensel 1 collaboration

Jo-Anne Janson 1 collaboration

Else M Bijker 1 collaboration

Helke van Dessel 1 collaboration

Ivar P E Gondrie 1 collaboration

Michiel van der Flier 1 collaboration