खोज परिणाम - Mieke M. van Haelst

परिणाम को परिष्कृत करें
  1. 1
    Drug Repurposing for Rare Diseases

    Drug Repurposing for Rare Diseases द्वारा Helen I. Roessler, Nine Knoers, Mieke M. van Haelst, Gijs van Haaften

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें
    Revisão
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    में बचाया:
  2. 2
    Fetal methotrexate syndrome: A systematic review of case reports

    Fetal methotrexate syndrome: A systematic review of case reports द्वारा Eline A. Verberne, Emma de Haan, J. Peter van Tintelen, Dick Lindhout, Mieke M. van Haelst

    प्रकाशित 2019
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    Revisão
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  3. 3
    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain द्वारा Matt Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

    प्रकाशित 2020
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    Artigo
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  4. 4
    Further confirmation of the MED13L haploinsufficiency syndrome

    Further confirmation of the MED13L haploinsufficiency syndrome द्वारा Mieke M. van Haelst, Glen R. Monroe, Karen Duran, Ellen van Binsbergen, Johannes M. P. J. Breur, Jacques C. Giltay, Gijs van Haaften

    प्रकाशित 2014
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    Artigo
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  5. 5
    Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

    Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders द्वारा Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg, Sonja Chocron, Sarah M. Kamel, Karen Duran, Mieke M. van Haelst, Gijs van Haaften, Jeroen Bakkers

    प्रकाशित 2018
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    Artigo
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  6. 6
    A comprehensive diagnostic approach to detect underlying causes of obesity in adults

    A comprehensive diagnostic approach to detect underlying causes of obesity in adults द्वारा Eline S. van der Valk, Erica L T van den Akker, Mesut Savas, Lotte Kleinendorst, Jenny A. Visser, Mieke M. van Haelst, Arya M. Sharma, Elisabeth F. C. van Rossum

    प्रकाशित 2019
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  7. 7
    Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics

    Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics द्वारा Lotte Kleinendorst, Ozair Abawi, H.J. van der Kamp, Mariëlle Alders, Hanne Meijers‐Heijboer, Elisabeth F. C. van Rossum, Erica L T van den Akker, Mieke M. van Haelst

    प्रकाशित 2019
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  8. 8
    Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

    Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options द्वारा Niels Vos, Lotte Kleinendorst, Liselot van der Laan, Jorrit van Uhm, Philip R. Jansen, Agnies M. van Eeghen, Saskia M. Maas, Marcel M.A.M. Mannens, Mieke M. van Haelst

    प्रकाशित 2024
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    Artigo
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  9. 9
    <i>MC4R</i> variants modulate α-MSH and setmelanotide induced cellular signaling at multiple levels

    <i>MC4R</i> variants modulate α-MSH and setmelanotide induced cellular signaling at multiple levels द्वारा Alejandra Virginia Rodriguez Rondon, Mila S. Welling, Erica L T van den Akker, Elisabeth F. C. van Rossum, Elles M. J. Boon, Mieke M. van Haelst, Patric J. D. Delhanty, Jenny A. Visser

    प्रकाशित 2024
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    Artigo
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  10. 10
    Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

    Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders द्वारा Niels Vos, Sabrina M. Oussaada, Mellody I. Cooiman, Lotte Kleinendorst, Kasper W. ter Horst, Eric J. Hazebroek, Johannes A. Romijn, Mireille J. Serlie, Marcel M.A.M. Mannens, Mieke M. van Haelst

    प्रकाशित 2020
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
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  11. 11
    Nemaline myopathy caused by <scp><i>TNNT1</i></scp> mutations in a <scp>D</scp>utch pedigree

    Nemaline myopathy caused by <scp><i>TNNT1</i></scp> mutations in a <scp>D</scp>utch pedigree द्वारा W. Ludo van der Pol, Jolien F. Leijenaar, Wim G.M. Spliet, Selma W. Lavrijsen, Nicolaas J. G. Jansen, Kees P. J. Braun, Marcel Mulder, Brigitte Timmers‐Raaijmakers, Kimberly Ratsma, Dennis Dooijes, Mieke M. van Haelst

    प्रकाशित 2013
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    Artigo
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  12. 12
    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome द्वारा Annette F. Baas, Michael T. Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphaël, Rutger A. J. Nievelstein, Wayne Nicholls, Johan Offerhaus, Daniëlle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P. Robertson, Mieke M. van Haelst, Katharina Wimmer

    प्रकाशित 2012
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    Artigo
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  13. 13
    Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats

    Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats द्वारा Joram D. Mul, Denovan P. Begg, Suzanne Alsters, Gijs van Haaften, Karen Duran, David A. D’Alessio, Carel W. le Roux, Stephen C. Woods, Darleen A. Sandoval, Alexandra I. F. Blakemore, Edwin Cuppen, Mieke M. van Haelst, Randy J. Seeley

    प्रकाशित 2012
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    Artigo
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  14. 14
    Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

    Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry द्वारा Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen S. Shields, Marı́a S. Remedi, Nine Knoers, Jin‐Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

    प्रकाशित 2019
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    Artigo
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  15. 15
    Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

    Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism द्वारा Suzanne Alsters, Anthony P. Goldstone, Jessica L. Buxton, Anna Zekavati, Alona Sosinsky, Andrianos M. Yiorkas, Susan Holder, Robert Klaber, Nicola Bridges, Mieke M. van Haelst, Carel W. le Roux, Andrew J. Walley, Robin Walters, Michael Mueller, Alexandra I. F. Blakemore

    प्रकाशित 2015
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    Artigo
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  16. 16
    Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

    Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center द्वारा Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H. T. M. Jongejan, Annelies E. Brandsma, Jenny A. Visser, Elisabeth F. C. van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M. J. Boon, Mieke M. van Haelst, Erica L T van den Akker

    प्रकाशित 2020
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    Artigo
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  17. 17
    A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

    A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism द्वारा Adam J. de Smith, Carolin Purmann, Robin Walters, Richard J. Ellis, Susan Holder, Mieke M. van Haelst, A. F. Brady, U. L. Fairbrother, Mehul Dattani, Julia M. Keogh, Elana Henning, Giles S.H. Yeo, Stephen O’Rahilly, Philippe Froguel, I. Sadaf Farooqi, Alexandra I. F. Blakemore

    प्रकाशित 2009
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    Artigo
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  18. 18
    Epigenotype-phenotype correlations in Silver-Russell syndrome

    Epigenotype-phenotype correlations in Silver-Russell syndrome द्वारा Emma Wakeling, S. A. Amero, Mariëlle Alders, Jet Bliek, Elizabeth Forsythe, Sudhesh Kumar, Derek Lim, Fiona MacDonald, Deborah Mackay, Eamonn R. Maher, Gudrun E. Moore, RL Poole, S. M. Price, Trine Tangeraas, C. L. S. Turner, Mieke M. van Haelst, Catherine Willoughby, I. Karen Temple, J. M. Cobben

    प्रकाशित 2010
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    Artigo
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  19. 19
    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity द्वारा Dragana Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju Mehta, Magdaléna Harakaľová, Karen Duran, Sanne M. C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst

    प्रकाशित 2016
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    Artigo
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  20. 20
    Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

    Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation द्वारा Sara Carvalhal, Ingrid Bader, Martin A. Rooimans, Anneke B. Oostra, Jesper A. Balk, René G. Feichtinger, Christine Beichler, Michael R. Speicher, Johanna M. van Hagen, Quinten Waisfisz, Mieke M. van Haelst, Martijn Bruijn, Alexandra Tavares, Johannes A. Mayr, Rob M.F. Wolthuis, Raquel A. Oliveira, Job de Lange

    प्रकाशित 2022
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    Artigo
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