المؤلفون: Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries

المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11

المؤلفون: Irma van deBeek, Iris E. Glykofridis, Anja Wagner, Dorine T. denToom, Ernie M. H. F. Bongers, Geert J. L. H. vanLeenders, Paul C. Johannesma, Hanne E. J. Meijers‐Heijboer, Rob M. F. Wolthuis, Maurice A. M. vanSteensel, Hendrikus J. Dubbink, Arjan C. Houweling

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)

مصطلحات موضوعية: Birt‐Hogg‐Dubé syndrome, Li‐Fraumeni syndrome, loss of heterozygosity, renal cell carcinoma, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/a9c2044213784ddca0ff837106d44238

المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: IFT140, skeletal ciliopathy, cilium phenotype, MZSDS-like features, CED-like features, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.931822/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d

المؤلفون: Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud

المصدر: Frontiers in genetics. 13

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3e68082aacf038418306d3958dd84b6e
https://pubmed.ncbi.nlm.nih.gov/35873489

المؤلفون: Ilkka Pietilä, Renata Prunskaite-Hyyryläinen, Susanna Kaisto, Elisavet Tika, Albertien M van Eerde, Antti M Salo, Leonardo Garma, Ilkka Miinalainen, Wout F Feitz, Ernie M H F Bongers, André Juffer, Nine V A M Knoers, Kirsten Y Renkema, Johanna Myllyharju, Seppo J Vainio

المصدر: PLoS ONE, Vol 11, Iss 1, p e0147171 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4721645?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f90dbc8395b0473aaaf1480c485a84ce

المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, IFT140, skeletal ciliopathy, cilium phenotype, MZSDS-like features, CED-like features

Relation: https://figshare.com/articles/dataset/DataSheet1_Identical_IFT140_Variants_Cause_Variable_Skeletal_Ciliopathy_Phenotypes_Challenges_for_the_Accurate_Diagnosis_docx/20250975

الاتاحة: https://doi.org/10.3389/fgene.2022.931822.s001
https://figshare.com/articles/dataset/DataSheet1_Identical_IFT140_Variants_Cause_Variable_Skeletal_Ciliopathy_Phenotypes_Challenges_for_the_Accurate_Diagnosis_docx/20250975

المؤلفون: Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo

المصدر: PLoS Genetics, Vol 9, Iss 3, p e1003360 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003360&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/69eacb54876d4ebc8dd03f2134f20bbf

المؤلفون: Ernie M H F, Bongers, Luke M, Shelton, Susanne, Milatz, Sjoerd, Verkaart, Anneke P, Bech, Jeroen, Schoots, Elisabeth A M, Cornelissen, Markus, Bleich, Joost G J, Hoenderop, Jack F M, Wetzels, Dorien, Lugtenberg, Tom, Nijenhuis

المصدر: Journal of the American Society of Nephrology : JASN. 28(10)

مصطلحات موضوعية: Male, Young Adult, Renal Tubular Transport, Inborn Errors, Adolescent, Clinical Research, Claudins, Humans, Alkalosis, Female, Hypokalemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::84be07a3dcbb7374186345ad55ceed51
https://pubmed.ncbi.nlm.nih.gov/28674042

المؤلفون: Sander, Groen In 't Woud, Kirsten Y, Renkema, Michiel F, Schreuder, Charlotte H W, Wijers, Loes F M, van der Zanden, Nine V A M, Knoers, Wout F J, Feitz, Ernie M H F, Bongers, Nel, Roeleveld, Iris A L M, van Rooij

المصدر: Birth defects research. Part A, Clinical and molecular teratology. 106(7)

مصطلحات موضوعية: Adult, Male, Alcohol Drinking, Smoking, Pregnancy in Diabetics, Kidney, Congenital Abnormalities, Folic Acid, Pregnancy, Risk Factors, Surveys and Questionnaires, Humans, Female, Obesity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ee9a9815b5936edfe387115490c45cec
https://pubmed.ncbi.nlm.nih.gov/27040999

المؤلفون: Monica Marini, Roberto Ravazzolo, Marco Di Duca, Nine V A M Knoers, Roberto Cusano, Ernie M H F Bongers, Marco Seri

المصدر: Scopus-Elsevier
International Journal of Molecular Medicine, 12, 1, pp. 79-82
International Journal of Molecular Medicine, 12, 79-82

مصطلحات موضوعية: Male, DNA Mutational Analysis, LIM-Homeodomain Proteins, Biology, medicine.disease_cause, Bioinformatics, Nephropathy, Nail-Patella Syndrome, Two-Hybrid System Techniques, Genetics, medicine, Humans, Coding region, Allele, Genotyping, Gene, Nail patella syndrome, Homeodomain Proteins, Mutation, Polymorphism, Genetic, General Medicine, LIM Domain Proteins, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, Genetic defects of metabolism [UMCN 5.1], Female, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6fff58ab5a8e5225caf0b5f5ed90f5c
https://hdl.handle.net/2066/186265

المؤلفون: Thomas Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny Jeggo

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23394566.v1; https://figshare.com/articles/journal_contribution/Deficiency_in_origin_licensing_proteins_impairs_cilia_formation_implications_for_the_aetiology_of_meier-gorlin_syndrome/23394566

الاتاحة: https://figshare.com/articles/journal_contribution/Deficiency_in_origin_licensing_proteins_impairs_cilia_formation_implications_for_the_aetiology_of_meier-gorlin_syndrome/23394566

المؤلفون: Machteld M Oud, Bregje W Van Bon, Ernie M H F Bongers, Alexander Hoischen, Carlo L Marcelis, Nicole De Leeuw, Suzanne J J Mol, Geert Mortier, Nine V A M Knoers, Han G Brunner, Ronald Roepman, Heleen H Arts

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.kouncil.nl/actualiteiten/Oud.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1078.8581; http://www.kouncil.nl/actualiteiten/Oud.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1078.8581
http://www.kouncil.nl/actualiteiten/Oud.pdf

المؤلفون: In Dutch Families, Nine V. A. M. Knoers, Ernie M. H. F. Bongers, Sylvia E. C. Van Beersum, J. P. Lommen, Hans Van Bokhoven, Frans A. Hol

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jasn.asnjournals.org/content/11/9/1762.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.1020; http://jasn.asnjournals.org/content/11/9/1762.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.1020
http://jasn.asnjournals.org/content/11/9/1762.full.pdf

المؤلفون: Ernie M. H. F. Bongers, Ramon Sonneveld, Elisabeth A. M. Cornelissen, Johan Van Der Vlag, Gerben A. J. Van Boekel, Jack F. M. Wetzels, Joost G. J. Hoenderop, Rene ́ J. M. Bindels, Tom Nijenhuis

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.physiomics.eu/media/135930/4089.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.691.4667; http://www.physiomics.eu/media/135930/4089.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.691.4667
http://www.physiomics.eu/media/135930/4089.full.pdf