Yvonne Hendriks - Dept Human & Clin Genet, Leiden Univ

基本信息

浏览量：4

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 12 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes

Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont,Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen,Illja J. Diets,Mathilde Nizon,Marie Vincent,Benjamin Cogne,Thomas Besnard, Marios Kambouris,Emily Anderson,Elaine H. Zackai,Carey McDougall,Sarah Donoghue,Anne O'Donnell-Luria,Zaheer Valivullah,Melanie O'Leary,Siddharth Srivastava,Heather Byers,Nancy Leslie,Sarah Mazzola,George E. Tiller, Moin Vera,Joseph J. Shen, Richard Boles,Vani Jain,Elise Brischoux-Boucher,Esther Kinning,Brittany N. Simpson,Jacques C. Giltay,Jacqueline Harris,Boris Keren,Anne Guimier, Pierre Marijon,Bert B. A. de Vries,Constance S. Motter,Bryce A. Mendelsohn, Samantha Coffino,Erica H. Gerkes,Alexandra Afenjar,Paola Visconti,Elena Bacchelli,Elena Maestrini,Andree Delahaye-Duriez,Catherine Gooch,Yvonne Hendriks, Hieab Adams,Christel Thauvin-Robinet,Sarah Josephi-Taylor,Marta Bertoli,Michael J. Parker,Julie W. Rutten,Oana Caluseriu,Hilary J. Vernon, Jonah Kaziyev,Jia Zhu,Jessica Kremen,Zoe Frazier, Hailey Osika,David Breault, Sreelata Nair,Suzanne M. E. Lewis,Fabiola Ceroni,Marta Viggiano,Annio Posar,Helen Brittain,Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter,Evelien Zonneveld-Huijssoon,Cecilia Mellado,Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez,Juan Dario Ortigoza-Escobar,Vivian Vernimmen,Margje Sinnema,Rolph Pfundt,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka

AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1626-1642

引用0浏览0WOS引用

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children and Adolescents with Pathogenic NPR2 Variants

Judith S. Renes, Ardine M. J. Reedijk,Yvonne M. C. Hendriks,Boudewijn Bakker,Annemieke M. Boot,Petra A. Van Setten,Danielle C. M. Van der Kaay,Anita C. S. Hokken-Koelega,Monique Losekoot,Hermine A. Van Duyvenvoorde,Christiaan De Bruin

HORMONE RESEARCH IN PAEDIATRICS (2024): 56-57

引用0浏览0引用

15-year experience with the IGF1 generation test in the Netherlands

Anne Kruijsen, Kirsten de Groote, Lauren Punt,Paul van Trotsenburg,Karijn Pijnenburg-Kleizen, Gianni Bocco,Lizanne Berkenbosch,Petra van Setten,Hedi Claahsen-van der Grinten,Danielle van der Kaay, Nina Schott,Vera van Tellingen, Edgar van Mill, Josine van der Heyden,Annelies Brandsma,Yvonne Hendriks,Monique Losekoot,Hermine van Duyvenvoorde,Anita Hokken-Koelega,Judith Renes,Jan Maarten Wit,Christiaan de Bruin,Sjoerd Joustra

HORMONE RESEARCH IN PAEDIATRICS (2023): 320-321

引用0浏览0引用

Biallelic POC1A Variants Cause Syndromic Severe Insulin Resistance with Muscle Cramps

Veronica Mericq,Isabel Huang-Doran,Dhekra Al-Naqeb, Javiera Basaure,Claudia Castiglioni,Christiaan de Bruin,Yvonne Hendriks,Enrico Bertini,Fowzan S. Alkuraya,Monique Losekoot,Khalid Al-Rubeaan,Robert K. Semple,Jan M. Wit

European Journal of Endocrinology（2022）

引用4浏览0WOS引用

Poorly Controlled Congenital Hypothyroidism Due to an Underlying Allgrove Syndrome

V. Van Tellingen,M. J. J. Finken,J. Israels,Y. M. C. Hendriks,G. A. Kamp,H. M. Van Santen

HORMONE RESEARCH IN PAEDIATRICS（2016）

引用4浏览0WOS引用

Maternale Uniparentale Disomie 14. in De Differentiaaldiagnose Bij Prader-Willi-syndroom

Saskia Tamminga,Susanne E. Stalman,Gerdine A. Kamp,Yvonne Hendriks,A.C.L. Knegt,Mariet W. Elting

Nederlandsch tijdschrift voor geneeskunde/Nederlands tijdschrift voor geneeskunde/NTvG-databank（2015）

引用23浏览0引用

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

S. Mercimek-Mahmutoglu,J. Ndika,W. Kanhai,Billette T. de Villemeur,D. Cheillan,E. Christensen,N. Dorison,V Hannig,Y. Hendriks,F. C. Hofstede, F. Lion,A. Lund,H. Mundy,G. Pitelet, M. C. Raspall, J. Scott-Schwoerer,V. Valayannopoulos,M. Williams,G. S. Salomons

Human Mutation（2014）

引用38浏览0WOS引用

The Phenotype of Floating-Harbor Syndrome: Clinical Characterization of 52 Individuals with Mutations in Exon 34 of SRCAP

Sarah M Nikkel,Andrew Dauber,Sonja de Munnik, Meghan Connolly,Rebecca L Hood,Oana Caluseriu,Jane Hurst,Usha Kini,Malgorzata J M Nowaczyk,Alexandra Afenjar,Beate Albrecht,Judith E Allanson,Paolo Balestri,Tawfeg Ben-Omran,Francesco Brancati,Isabel Cordeiro, Bruna Santos da Cunha,Louisa A Delaney,Anne Destrée,David Fitzpatrick,Francesca Forzano,Neeti Ghali,Greta Gillies, Katerina Harwood,Yvonne M C Hendriks,Delphine Héron,Alexander Hoischen,Engela Magdalena Honey,Lies H Hoefsloot,Jennifer Ibrahim, Claire M Jacob,Sarina G Kant,Chong Ae Kim,Edwin P Kirk,Nine V A M Knoers,Didier Lacombe,Chung Lee,Ivan F M Lo,Luiza S Lucas,Francesca Mari,Veronica Mericq,Jukka S Moilanen, Sanne Traasdahl Møller,Stephanie Moortgat,Daniela T Pilz,Kate Pope,Susan Price,Alessandra Renieri,Joaquim Sá,Jeroen Schoots,Elizabeth L Silveira,Marleen E H Simon,Anne Slavotinek,I Karen Temple,Ineke van der Burgt,Bert B A de Vries,James D Weisfeld-Adams,Margo L Whiteford, Dagmar Wierczorek,Jan M Wit, Connie Fung On Yee,Chandree L Beaulieu,FORGE Canada Consortium,Sue M White,Dennis E Bulman,Ernie Bongers,Han Brunner,Murray Feingold,Kym M Boycott

Orphanet Journal of Rare Diseases (2013): 63-63

引用72浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn