Arts, Heleen H.: search on Z-Library

Fundraising September 15, 2024 – October 1, 2024 About fundraising

The world's largest scientific articles store. 70,000,000+ articles for free.

Fundraising September 15, 2024 – October 1, 2024

Z-Library is one of the largest online libraries in the world that contains over 17,000,000 books and 84,837,000 articles. We aim to make literature accessible to everyone. Today (September 15, 2024) we've started additional fundraising to project maintenance and development.

Also UNLIMITED downloads (for 31 days after the day of making donation) are available for ALL contributors who will donate during the fundraising period till October 1, 2024.

About fundraisingRead more

Make a donation

1

ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion

Arts, Heleen H., Lynch, Lorrie, Grafodatskaya, Daria, Eng, Barry, Malloy, Lesley, Duck, John, White, Robyn, Woodside, Crystal, Bell, Kathleen, Zbuk, Kevin M., McCready, Elizabeth

Journal:

Cancer Genetics

Year:

2020

Language:

english

File:

PDF, 618 KB

english, 2020

2

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

den Hollander, Anneke I, Koenekoop, Robert K, Mohamed, Moin D, Arts, Heleen H, Boldt, Karsten, Towns, Katherine V, Sedmak, Tina, Beer, Monika, Nagel-Wolfrum, Kerstin, McKibbin, Martin

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 407 KB

english, 2007

3

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 565 KB

english, 2007

4

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L.M. Coene, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman F. Als

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.03 MB

english, 2008

5

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M.

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 692 KB

english, 2010

6

Focus on Molecules: RPGRIP1

Heleen H. Arts, Frans P.M. Cremers, Nine V.A.M. Knoers, Ronald Roepman

Journal:

Experimental Eye Research

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

7

Current insights into renal ciliopathies: what can genetics teach us?

Heleen H. Arts, Nine V. A. M. Knoers

Journal:

Pediatric Nephrology

Year:

2013

Language:

english

File:

PDF, 496 KB

english, 2013

8

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.70 MB

english, 2013

9

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Lettebo

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.30 MB

english, 2014

10

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Lin, Angela E., Traum, Avram Z., Sahai, Inderneel, Keppler-Noreuil, Kim, Kukolich, Mary K., Adam, Margaret P., Westra, Sjirk J., Arts, Heleen H.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.97 MB

english, 2013

11

PS6 - 31. The effect of therapeutic footwear modifications on in-shoe plantar pressures in high risk diabetic patients

Arts, Mark L.J., de Haart, Mirjam, Waaijman, Roelof, Dahmen, Rutger, Berendsen, Heleen, Nollet, Frans, Bus, Sicco A.

Journal:

Nederlands Tijdschrift voor Diabetologie

Year:

2012

Language:

english

File:

PDF, 298 KB

english, 2012

12

Non-invasive sources of cells with primary cilia from pediatric and adult patients

Ajzenberg, Henry, Slaats, Gisela G., Stokman, Marijn F., Arts, Heleen H., Logister, Ive, Kroes, Hester Y., Renkema, Kirsten Y., van Haelst, Mieke M., Terhal, Paulien A., van Rooij, Iris A., Keijzer-Ve

Journal:

Year:

2015

Language:

english

File:

PDF, 2.09 MB

english, 2015

13

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

Stokman, Marijn F., Oud, Machteld M., van Binsbergen, Ellen, Slaats, Gisela G., Nicolaou, Nayia, Renkema, Kirsten Y., Nijman, Isaac J., Roepman, Ronald, Giles, Rachel H., Arts, Heleen H., Knoers, Nine

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 353 KB

english, 2016

14

Ciliopathies: Genetics in Pediatric Medicine

Oud, Machteld, Lamers, Ideke, Arts, Heleen

Journal:

Journal of Pediatric Genetics

Year:

2016

Language:

english

File:

PDF, 310 KB

english, 2016

15

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Rober

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 2.67 MB

english, 2017

16

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Matsui, Hiroko, Naeem, Muhammad Asif, Raghavendra, Pongali B, Frazer, Kelly A, Arts, Heleen H, Riazuddin, Sheikh, Akram, Javed, Hejtmancik, J Fielding,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.41 MB

english, 2017

17

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsa

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

18

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A., van Beersum, Sylvia E. C., Phelps, Ian G., Arts, Heleen H., Keunen, Jan E

Journal:

Year:

2015

Language:

english

File:

PDF, 12.73 MB

english, 2015

19

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

Renkema, Kirsten Y., Giles, Rachel H., Lilien, Marc R., Beales, Philip L., Roepman, Ronald, Oud, Machteld M., Arts, Heleen H., Knoers, Nine V. A. M.

Journal:

Frontiers in Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.22 MB

english, 2018

20

Insight into the possible aetiologies of Blount’s disease

Banwarie, Radjen R., Hollman, Freek, Meijs, Nandi, Arts, Jacobus J., Vroemen, Pascal, Moh, Prosper, Staal, Heleen M.

Journal:

Journal of Pediatric Orthopaedics B

Year:

2019

Language:

english

File:

PDF, 405 KB

english, 2019

21

Insight into the possible aetiologies of Blount’s disease

Banwarie, Radjen R., Hollman, Freek, Meijs, Nandi, Arts, Jacobus J., Vroemen, Pascal, Moh, Prosper, Staal, Heleen M.

Journal:

Journal of Pediatric Orthopaedics B

Year:

2019

File:

PDF, 405 KB

2019

22

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

WalczakâSztulpa, Joanna, Wawrocka, Anna, Leszczynska, Beata, Mikulska, Boyana, Arts, Heleen H., BukowskaâOlech, Ewelina, Daniel, Maria, Krawczynski, Maciej R., LatosâBielenska, Anna, Obersztyn,

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.75 MB

2020