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News
Researchers discover new gene for Sensenbrenner syndrome
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"Understanding the causes is the first step towards therapy," underlines Heleen Arts. "My research is important for improving diagnosis of the disease and for better genetic counseling. I think it is going to take years to develop effective treatment". Further research is aimed at increasing the knowledge of the ...
Network Profiles
LinkedIn: Heleen Arts | Professioneel profiel - LinkedIn
Bekijk het profiel van Heleen Arts op LinkedIn, de grootste professionele community ter wereld. Heleen Arts heeft 2 banen vermeld op zijn of haar profiel. Bekijk het volledige profiel op LinkedIn om de connecties van Heleen Arts en vacatures bij vergelijkbare bedrijven te zien.
Heleen Arts – Romanian Journal of Pediatrics
rjp.com.ro
Heleen Arts. Latest posts by Heleen Arts . Articole semnate de acelasi autor in Revista Romana de Pediatrie: SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ.
Interests
More insight into Sensenbrenner syndrome -- ScienceDaily
www.sciencedaily.com
Dutch researchers have found a new gene for Sensenbrenner syndrome. The mutation adds support to the hypothesis that defects in ciliar transport are the cause...
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome | JMG...
blogs.bmj.com
Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be...
Business Profiles
Researchgate: Heleen Arts
Nijmegen, Netherlands
Just a moment...
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View Heleen Arts's business profile at University of Western Ontario and see work history, affiliations and more.
Employees
Dr. Heleen Arts - Visiting Speaker - Biochemistry - Western University
www.schulich.uwo.ca
Dr. Heleen Arts - Visiting Speaker Biochemistry Visiting Speaker Seminar. Friday October 17, :30 am in MSB384
Events - Biochemistry - Western University
www.schulich.uwo.ca
Events. 29 Sept Dr. Heleen Arts - Visiting Speaker; October 14, Tom McMurrough receives the Dr. Bishnu D. Sanwal Graduate Performance Award; …
Books & Literature
Subcellular Proteomics: From Cell Deconstruction to System...
books.google.de
This volume summarizes the new developments that made subcellular proteomics a rapidly expanding area. It examines the different levels of subcellular...
Related Documents
Abstracts | 4th Annual Canadian Human and Statistical Genetics Meeting
genetics15.mcgill-cihr-ig.ca
Rare (Ciliary/Centrosomal) Disorders Unraveled: From Clinical Characterization to Genetic Analysis and Functional Characterization · Heleen Arts. Biochemistry, University of Western Ontario ...
Hannie Kremer - Academia.edu
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Academia.edu is a place to share and follow research.
[PDF] Disease gene identification with exome sequencing - Free...
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Download Disease gene identification with exome sequencing...
Rare (Ciliary/Centrosomal) Disorders Unraveled: From Clinical...
genetics15.mcgill-cihr-ig.ca
Heleen Arts. Biochemistry, ... Rare (Ciliary/Centrosomal) Disorders Unraveled: From Clinical Characterization to Genetic Analysis and Functional Characterization.
Scientific Publications
Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf
www.ncbi.nlm.nih.gov
Heleen Arts, PhD. Department of Human Genetics Radboud University Medical Center Nijmegen, The Netherlands. . Nine Knoers, MD, PhD.
Heleen H. Arts – ScienceOpen
www.scienceopen.com
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal- recessive disease that is characterized by craniosynostosis and ectodermal and ...
Publications
A common allele in RPGRIP1L is a deterministic BioMedSearch
www.biomedsearch.com
We also thank Heleen Arts for critical evaluation of the manuscript. This work was supported by grants R01EY from the National Eye Institute (HK and AS), R01HD from the National Institute of Child Health and Development (NK), R01DK , R01DK (NK) R01DK , R01DK , ...
Heleen H Arts's Research | CureHunter
www.curehunter.com
1, Polydactyly (Polydactylism) , Retinal Diseases
Cystic Kidney Diseases (Cystic Kidney Disease)
Liver Diseases (Liver Disease)
Miscellaneous
Heleen Arts | LinkedIn
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View Heleen Arts's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Heleen Arts discover inside ...
Heleen Arts | LinkedIn
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View Heleen Arts’ professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Heleen Arts discover inside ...
Feestje van Gleb en Andrew - Yahoo Groups
groups.yahoo.com
To: Lost In Nijmegen &> Cc: Jamie Kramer <j.kramer@...>; Jamie Kramer <obliokramer@...>; Heleen Arts <H.Arts@...>
Heleen arts | Meaning Pronunciation Origin of Baby Name Heleen arts...
namesof.com
Heleen arts : Baby Name Heleen arts Meaning,Pronunciation,Origin,Religion,Pronounce of Baby Name Heleen arts. Similar Names ,All about the name Heleen arts Are...
Yahoo Groups
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From: Andrew Reid <typically@...> To: Lost In Nijmegen <lost_in_nijmegen@ yahoogroups.com>; Jamie Kramer <j.kramer@...>; Heleen Arts <H.Arts@...>; David ...
Frye-stipendia voor Heleen Arts en Arenda van Beek | MedicalFacts.nl
www.medicalfacts.nl
· Tien veelbelovende vrouwelijke onderzoekers ontvangen dinsdag 23 december van de Radboud Universiteit Nijmegen een Frye-stipendium. Twee van hen …
weblog voeding
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weblog voeding - gezonde voeding - het geheim om af te vallen en een betere weerstand te krijgen
CCMG-CCGM - Trainee Poster Presentations - Session 1 - Odd...
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JCI - Disruption of intraflagellar protein transport in photoreceptor...
www.jci.org
... Moniek Riemersma for help in cloning IFT constructs, Emine Bolat for qPCR assistance, Heleen Arts for help in lebercilin antibody production, ...
RJP Vol. LXIV, Nr. 3, An – Romanian Journal of Pediatrics
rjp.com.ro
... Heleen Arts, Han Brunner, Dana Fintina. 11-EN. Type 2 Gaucher disease: onset and evolution. Case report 11-RO. Debut si evolutie intr-un caz de boala Gaucher Tip ...
Disease gene identification with exome sequencing - PDF
docplayer.net
26 Acknowledgements Collaborators Clinicians worldwide AnEUploidy consortium Department Head Han Brunner Clinical Genetics Bregje van Bon, Bert de Vries, Nine Knoers Molecular Genetics Heleen Arts, Ronald Roepman Next generation sequencing team Genomic Disorders Group: Alexander Hoischen, Lisenka ...
Roepman, Ronald: vision-research.eu - The Gateway to European Vision...
www.vision-research.eu
Heleen Arts (Post-doc; ciliopathies associated with kidney dysfunction); Karlien Coene (PhD student; Proteomics, ciliary protein interaction networks and ciliary ...
European Society of Human Genetics: Early Career Award Winners
www.eshg.org
- Young Investigator Awards for Outstanding Science - Isabelle Oberlé Award for and outstanding presentation in the field of mental retardation ... Heleen Arts ...
Genetische oorzaken van ciliopathieën (Promotie) - Europa Nu
www.europa-nu.nl
Onderzoekster Heleen Arts spoorde verschillende genetische oorzaken van ciliopathieën op. Deze aandoeningen ontstaan door defecten in kleine, langgerekte …
J a n n i e M e u s s e n. Pagina 3 Fietsbeleid van Radboud eervolle ...
docplayer.nl
Heleen Arts Tijdens het 81e Symposium van de Nederlandse Federatie voor Nefrologie op vrijdag 5 oktober heeft Heleen Arts van de afdeling Antropogenetica de prijs voor de beste presentatie in de wacht gesleept. Haar presentatie was getiteld: Mutations in the gene encoding the basal body protein RPGRIP1L, a novel ...
JH Bloemen - Hilversum, Bloemenkraam, Planten - Op13.nl
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MOESM6 of A novel ICK mutation causes ciliary disruption and lethal...
figshare.com
MOESM6 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
Inserm - Mainzer-Saldino syndrome is a ciliopathy caused by mutations...
www.hal.inserm.fr
... Machteld Oud 7, Nora Shannon 8, Martine Le Merrer 1, Christine Pietrement 9, Philip Beales 10, Heleen Arts 7, Arnold Munnich 1, Josseline ...
Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the...
hal.archives-ouvertes.fr
Philip Beales 10Heleen Arts 7 Arnold Munnich 1 Josseline Kaplan 1 Corinne Antignac 2 Valérie Cormier-Daire 1 Jean-Michel Rozet 1
Mer innsikt Sensenbrenner syndrom
24monde.info
Nederlandske forskere av Radboud University Nijmegen Medical Center har oppdaget et nytt gen for Sensenbrenner syndrom. Mutasjonen gir støtte for den hypotese...
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