المؤلفون: Ross, Jamila N., Ruigrok, Lisanne C., Fennis, Willem M.M., Cune, Marco S., Rosenberg, Antoine J.W.P., van Nunen, Annick B., Créton, Marijn A., Ploos van Amstel, Hans Kristian, van den Boogaard, Marie José J.H.

المساهمون: MKA/BT Onderzoek, Other research (not in main researchprogram), Poli BT 9A-MFP, Zorgeenheid MKA/BT Medisch, Genetica, Child Health, Cancer, Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: gastrointestinal complaints, hypodontia, inflammatory bowel disease, Oligodontia, Wnt signaling pathway, Otorhinolaryngology, General Dentistry

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/444988

الاتاحة: https://dspace.library.uu.nl/handle/1874/444988

المؤلفون: Ross, Jamila N, Ruigrok, Lisanne C, Fennis, Willem M M, Cune, Marco S, Rosenberg, Antoine J W P, van Nunen, Annick B, Créton, Marijn A, Ploos van Amstel, Hans-Kristian, van den Boogaard, Marie-José J H

المصدر: Ross , J N , Ruigrok , L C , Fennis , W M M , Cune , M S , Rosenberg , A J W P , van Nunen , A B , Créton , M A , Ploos van Amstel , H-K & van den Boogaard , M-J J H 2023 , ' Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation ' , Oral diseases , pp. 300-307 . https://doi.org/10.1111/odi.13954

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/071c1b5d-b404-4aaa-aa61-c233046c71e2
https://research.rug.nl/en/publications/071c1b5d-b404-4aaa-aa61-c233046c71e2
https://doi.org/10.1111/odi.13954
https://pure.rug.nl/ws/files/176730505/Gastrointestinal_symptoms_in_patients_with_isolated_oligodontia_and_a_Wnt_gene_mutation.pdf

المؤلفون: HEE, Ploos van Amstel, Hans Kristian, Vissers, L.E.L.M., Henneman, L., Frederix, Geert, Olde Keizer, Richelle

URL: https://doi.org/10.33540/2256
http://hdl.handle.net/1874/455243
https://dspace.library.uu.nl/handle/1874/455243

المؤلفون: Blaauwgeers, Maaike W., van Asten, Ivar, Kruip, Marieke J.H.A., Beckers, Erik A.M., Coppens, Michiel, Eikenboom, Jeroen, van Galen, Karin P.M., Huisman, Albert, Korporaal, Suzanne J.A., Ploos van Amstel, Hans Kristian, Tamminga, Rienk Y.J., Urbanus, Rolf T., Schutgens, Roger E.G.

المساهمون: Other research (not in main researchprogram), Poli Van Creveldkliniek Medisch, Circulatory Health, CDL Staf Patiëntenzorg KC, Experimentele Afd. Cardiologie 1, Genetica Sectie Genoomdiagnostiek, Cancer, Child Health

مصطلحات موضوعية: Hematology, Journal Article, Review

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439124

الاتاحة: https://dspace.library.uu.nl/handle/1874/439124

المؤلفون: van Heerwaarde, Alise A, Klomberg, Renz C W, van Ravenswaaij-Arts, Conny M A, Ploos van Amstel, Hans Kristian, Toekoen, Aartie, Jessurun, Fariza, Garg, Abhimanyu, van der Kaay, Daniëlle C M

المساهمون: MS Neonatologie, Genetica, Child Health, Cancer

مصطلحات موضوعية: Berardinelli-Seip syndrome, Diabetes mellitus, children, insulin resistance, lipodystrophy, low-or middle-income country, Endocrinology, Diabetes and Metabolism, Biochemistry, Clinical Biochemistry, medical

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/444986

الاتاحة: https://dspace.library.uu.nl/handle/1874/444986

المؤلفون: Van Heerwaarde, Alise A., Klomberg, Renz C.W., Van Ravenswaaij-Arts, Conny M.A., Ploos Van Amstel, Hans Kristian, Toekoen, Aartie, Jessurun, Fariza, Garg, Abhimanyu, Van Der Kaay, Daniëlle C.M.

المصدر: Van Heerwaarde , A A , Klomberg , R C W , Van Ravenswaaij-Arts , C M A , Ploos Van Amstel , H K , Toekoen , A , Jessurun , F , Garg , A & Van Der Kaay , D C M 2021 , ' Approach to Diagnosing a Pediatric Patient with Severe Insulin Resistance in Low-or Middle-income Countries ' , Journal of Clinical Endocrinology and Metabolism , vol. 106 , no. 12 , pp. 3621-3633 . https://doi.org/10.1210/clinem/dgab549

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/dcead580-065b-40df-b177-d230d7b232fc

الاتاحة: https://pure.eur.nl/en/publications/dcead580-065b-40df-b177-d230d7b232fc
https://doi.org/10.1210/clinem/dgab549
https://pure.eur.nl/ws/files/50765695/dgab549.pdf
http://www.scopus.com/inward/record.url?scp=85121228156&partnerID=8YFLogxK

المؤلفون: MKA/BT Onderzoek, Other research (not in main researchprogram), Poli BT 9A-MFP, Zorgeenheid MKA/BT Medisch, Genetica, Child Health, Cancer, Genetica Sectie Genoomdiagnostiek, Ross, Jamila N., Ruigrok, Lisanne C., Fennis, Willem M.M., Cune, Marco S., Rosenberg, Antoine J.W.P., van Nunen, Annick B., Créton, Marijn A., Ploos van Amstel, Hans Kristian, van den Boogaard, Marie José J.H.

URL: https://doi.org/10.1111/odi.13954
http://hdl.handle.net/1874/444988
https://dspace.library.uu.nl/handle/1874/444988
http://www.scopus.com/inward/record.url?scp=85109962733&partnerID=8YFLogxK
1354-523X
Oral Diseases
29
1
300
307

المؤلفون: Ross, Jamila, Fennis, Willem, de Leeuw, Nicole, Cune, Marco, Willemze, Annemieke, Rosenberg, Antoine, Ploos van Amstel, Hans Kristian, Créton, Marijn, van den Boogaard, Marie José

المساهمون: MKA/BT Onderzoek, UMC Utrecht, Other research (not in main researchprogram), Poli BT 9A-MFP, Secretariaat Hematologie, Poli Van Creveldkliniek Medisch, Zorgeenheid MKA/BT Medisch, Genetica, Genetica Sectie Genoomdiagnostiek, Cancer, Child Health, Genetica Klinische Genetica

مصطلحات موضوعية: contiguous gene deletion, ETV6, LRP6, oligodontia, thrombocytopenia, Genetics(clinical), Genetics, Molecular Biology, Journal Article

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/391983

الاتاحة: https://dspace.library.uu.nl/handle/1874/391983

المؤلفون: Ross, Jamila, Fennis, Willem, de Leeuw, Nicole, Cune, Marco, Willemze, Annemieke, Rosenberg, Antoine, Ploos van Amstel, Hans-Kristian, Créton, Marijn, van den Boogaard, Marie-José

المصدر: Ross , J , Fennis , W , de Leeuw , N , Cune , M , Willemze , A , Rosenberg , A , Ploos van Amstel , H-K , Créton , M & van den Boogaard , M-J 2019 , ' Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2 : A three-generation clinical report ' , Molecular genetics & genomic medicine , vol. 7 , no. 6 , e679 . https://doi.org/10.1002/mgg3.679

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/bda1a4bf-3474-486a-af30-53c7551bdc01

الاتاحة: https://hdl.handle.net/11370/bda1a4bf-3474-486a-af30-53c7551bdc01
https://research.rug.nl/en/publications/bda1a4bf-3474-486a-af30-53c7551bdc01
https://doi.org/10.1002/mgg3.679
https://pure.rug.nl/ws/files/79903064/Ross_et_al_2019_Molecular_Genetics_Genomic_Medicine.pdf

المؤلفون: Kleinendorst, Lotte, Massink, Maarten P G, Cooiman, Mellody I, Savas, Mesut, van der Baan-Slootweg, Olga H, Roelants, Roosje J, Janssen, Ignace C M, Meijers-Heijboer, Hanne J, Knoers, Nine V A M, Ploos van Amstel, Hans Kristian, van Rossum, Elisabeth F C, van den Akker, Erica L T, van Haaften, Gijs, van der Zwaag, Bert, van Haelst, Mieke M

المصدر: Journal of Medical Genetics ; volume 55, issue 9, page 578-586 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2018-105315
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2018-105315

المؤلفون: Vermeulen, Carlo, Geeven, Geert, de Wit, Elzo, Verstegen, Marjon J A M, Jansen, Rumo P.M., van Kranenburg, Melissa, de Bruijn, Ewart, Pulit, Sara L., Kruisselbrink, Evelien, Shahsavari, Zahra, Omrani, Davood, Zeinali, Fatemeh, Najmabadi, Hossein, Katsila, Theodora, Vrettou, Christina, Patrinos, George P., Traeger-Synodinos, Joanne, Splinter, Erik, Beekman, Jeffrey M., Kheradmand Kia, Sima, Te Meerman, Gerard J, Ploos van Amstel, Hans Kristian, de Laat, Wouter

المساهمون: Genetica, CMM Groep Cuppen, Cancer, Neurogenetica, Circulatory Health, CTI, Longziekten onderzoek 2, Beekman, Child Health, Regenerative Medicine and Stem Cells, Genetica Sectie Genoomdiagnostiek, Divisie Biomedische Genetica, Hubrecht Institute with UMC

مصطلحات موضوعية: Beta thalassemia, CAH, Cell-free DNA, CfDNA, Congenital adrenal hyperplasia, Cystic fibrosis, Monogenic diseases, NIPD, Non-invasive prenatal diagnosis, TLA, Targeted haplotyping, Targeted locus amplification, Genetics, Genetics(clinical), Journal Article

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/356600

الاتاحة: https://dspace.library.uu.nl/handle/1874/356600

المؤلفون: Dhamo, Brunilda, Fennis, Willem, Créton, Marijn, Vucic, Strahinja, Cune, Marco, Ploos van Amstel, Hans Kristian, Wolvius, Eppo B, van den Boogaard, Marie-José, Ongkosuwito, Edwin M

المصدر: European Journal of Human Genetics ; volume 25, issue 1, page 59-65 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2016.117
http://www.nature.com/articles/ejhg2016117.pdf
http://www.nature.com/articles/ejhg2016117

المؤلفون: Ross, Jamila N., Ruigrok, Lisanne C., Fennis, Willem M.M., Cune, Marco S., Rosenberg, Antoine J.W.P., van Nunen, Annick B., Créton, Marijn A., Ploos van Amstel, Hans‐Kristian, van den Boogaard, Marie‐José J.H.

المصدر: Oral Dis

مصطلحات موضوعية: Oral and Systemic Health, envir, socio

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10078688/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10078688/

المؤلفون: MS Neonatologie, Genetica, Child Health, Cancer, van Heerwaarde, Alise A, Klomberg, Renz C W, van Ravenswaaij-Arts, Conny M A, Ploos van Amstel, Hans Kristian, Toekoen, Aartie, Jessurun, Fariza, Garg, Abhimanyu, van der Kaay, Daniëlle C M

URL: https://doi.org/10.1210/clinem/dgab549
http://hdl.handle.net/1874/444986
https://dspace.library.uu.nl/handle/1874/444986
http://www.scopus.com/inward/record.url?scp=85121228156&partnerID=8YFLogxK
0021-972X
The Journal of clinical endocrinology and metabolism
106
12
3621
3633

المؤلفون: Harakalova, Magdalena, van den Boogaard, Marie-Jose, Sinke, Richard, van Lieshout, Stef, van Tuil, Marc C, Duran, Karen, Renkens, Ivo, Terhal, Paulien A, de Kovel, Carolien, Nijman, Ies J, van Haelst, Mieke, Knoers, Nine V A M, van Haaften, Gijs, Kloosterman, Wigard, Hennekam, Raoul C M, Cuppen, Edwin, Ploos van Amstel, Hans Kristian

مصطلحات موضوعية: New disease loci

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/49/8/539; http://dx.doi.org/10.1136/jmedgenet-2012-100921

الاتاحة: http://jmg.bmj.com/cgi/content/short/49/8/539
https://doi.org/10.1136/jmedgenet-2012-100921

المؤلفون: Vogel, Maartje J, van Zon, Patrick, Brueton, Louise, Gijzen, Marleen, van Tuil, Marc C, Cox, Phillip, Schanze, Denny, Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Blair, Edward, Zenker, Martin, Scambler, Peter J, Ploos van Amstel, Hans Kristian, van Haelst, Mieke M

مصطلحات موضوعية: New disease loci

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/49/5/303; http://dx.doi.org/10.1136/jmedgenet-2011-100590

الاتاحة: http://jmg.bmj.com/cgi/content/short/49/5/303
https://doi.org/10.1136/jmedgenet-2011-100590

المؤلفون: van den Boogaard, Marie-José, Créton, Marijn, Bronkhorst, Yvon, van der Hout, Annemieke, Hennekam, Eric, Lindhout, Dick, Cune, Marco, Ploos van Amstel, Hans Kristian

مصطلحات موضوعية: Developmental defects

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/49/5/327; http://dx.doi.org/10.1136/jmedgenet-2012-100750

الاتاحة: http://jmg.bmj.com/cgi/content/short/49/5/327
https://doi.org/10.1136/jmedgenet-2012-100750

المؤلفون: Hochstenbach, Ron, Poot, Martin, Nijman, Isaac J, Renkens, Ivo, Duran, Karen J, van'T Slot, Ruben, van Binsbergen, Ellen, van der Zwaag, Bert, Vogel, Maartje J, Terhal, Paulien A, Ploos van Amstel, Hans Kristian, Kloosterman, Wigard P, Cuppen, Edwin

المصدر: European Journal of Human Genetics ; volume 20, issue 7, page 748-753 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2011.263
http://www.nature.com/articles/ejhg2011263.pdf
http://www.nature.com/articles/ejhg2011263

المؤلفون: Poot, Martin, Eleveld, Marc J, van 't Slot, Ruben, Ploos van Amstel, Hans Kristian, Hochstenbach, Ron

المصدر: European Journal of Human Genetics ; volume 18, issue 1, page 39-46 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2009.120
http://www.nature.com/articles/ejhg2009120.pdf
http://www.nature.com/articles/ejhg2009120

المؤلفون: Cooiman, MI, Kleinendorst, Lotte, Aarts, E.O., Janssen, I.M.C., Ploos van Amstel, Hans Kristian, Blakemore, Alexandra I., Hazebroek, Eric J., Meijers-Heijboer, EJ, van der Zwaag, B., Berends, F.J., van Haelst, MM

المصدر: Cooiman , MI , Kleinendorst , L , Aarts , E O , Janssen , I M C , Ploos van Amstel , H K , Blakemore , A I , Hazebroek , E J , Meijers-Heijboer , EJ , van der Zwaag , B , Berends , F J & van Haelst , MM 2020 , ' Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients With Morbid Obesity ' , Obesity Surgery , vol. 30 , no. 2 , 10.1007/s11695-019-04184-w , pp. 470-477 . https://doi.org/10.1007/s11695-019-04184-w

الاتاحة: https://research.vumc.nl/en/publications/6cbc97fc-2c96-411a-a34f-4c35f35796a0
https://doi.org/10.1007/s11695-019-04184-w
http://www.scopus.com/inward/record.url?scp=85074605158&partnerID=8YFLogxK