Search Results - Donkervoort, Sandra

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  1. 1
    Next-generation sequencing still needs our generation's clinicians

    Next-generation sequencing still needs our generation's clinicians by Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.

    Published 2015
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  2. 2
    Enterocolic lymphocytic phlebitis: an oncologic surgical resection without a preoperative pathologic diagnosis

    Enterocolic lymphocytic phlebitis: an oncologic surgical resection without a preoperative pathologic diagnosis by Huiberts, Astrid A.M., Donkervoort, Sandra C., Blok, Willem L., Blaauwgeers, Hans L.G.

    Published 2014
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  3. 3
    Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

    Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia by Donkervoort, Sandra, Dastgir, Jahannaz, Hu, Ying, Zein, Wadih, Marks, Harold, Blackstone, Craig, Bönnemann, Carsten G.

    Published 2013
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  4. 4
    Systematic review of cystic duct closure techniques in relation to prevention of bile duct leakage after laparoscopic cholecystectomy

    Systematic review of cystic duct closure techniques in relation to prevention of bile duct leakage after laparoscopic cholecystectomy by van Dijk, Aafke H, van Roessel, Stijn, de Reuver, Philip R, Boerma, Djamila, Boermeester, Marja A, Donkervoort, Sandra C

    Published 2018
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  5. 5
    A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene

    A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene by Plewa, Jake, Surampalli, Abhilasha, Wencel, Marie, Milad, Merit, Donkervoort, Sandra, Caiozzo, Vincent J., Goyal, Namita, Mozaffar, Tahseen, Kimonis, Virginia

    Published 2018
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  6. 6
    Bile leakage after loop closure vs clip closure of the cystic duct during laparoscopic cholecystectomy: A retrospective analysis of a prospective cohort

    Bile leakage after loop closure vs clip closure of the cystic duct during laparoscopic cholecystectomy: A retrospective analysis of a prospective cohort by Donkervoort, Sandra C, Dijksman, Lea M, van Dijk, Aafke H, Clous, Emile A, Boermeester, Marja A, van Ramshorst, Bert, Boerma, Djamila

    Published 2020
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  7. 7
    Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

    Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis by Schüle, Rebecca, Siddique, Teepu, Deng, Han-Xiang, Yang, Yi, Donkervoort, Sandra, Hansson, Magnus, Madrid, Ricardo E., Siddique, Nailah, Schöls, Ludger, Björkhem, Ingemar

    Published 2010
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  8. 8
    Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype

    Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype by Bharucha-Goebel, Diana X., Neil, Erin, Donkervoort, Sandra, Dastgir, Jahannaz, Wiggs, Edythe, Winder, Thomas L., Moore, Steven A., Iannaccone, Susan T., Bönnemann, Carsten G.

    Published 2015
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  9. 9
    Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement

    Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement by Hotchkiss, Leslie, Donkervoort, Sandra, Leach, Meganne, Mohassel, Payam, Bharucha-Goebel, Diana X., Bradley, Nathaniel, Nguyen, David, Hu, Ying, Gurgel-Giannetti, Juliana, Bönnemann, Carsten G.

    Published 2016
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  10. 10
    Recruitment challenges to the I CARE study: a randomised trial on general practitioner-led colon cancer survivorship care

    Recruitment challenges to the I CARE study: a randomised trial on general practitioner-led colon cancer survivorship care by Duineveld, Laura A M, Vos, Julien A M, Wieldraaijer, Thijs, Donkervoort, Sandra C, Wind, Jan, van Weert, Henk C P M, van Asselt, Kristel M

    Published 2021
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  11. 11
    Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter

    Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter by Kahle, Kristopher T., Flores, Bianca, Bharucha-Goebel, Diana, Zhang, Jinwei, Donkervoort, Sandra, Hegde, Madhuri, Begum, Gulnaz, Duran, Daniel, Liang, Bo, Sun, Dandan, Bönnemann, Carsten G., Delpire, Eric

    Published 2016
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  12. 12
    Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

    Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia by Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, McInerney-Leo, Aideen, Kimonis, Virginia

    Published 2015
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  13. 13
    ‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia

    ‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia by Donkervoort, Sandra, Schindler, Alice, Tesi-Rocha, Carolina, Schreiber, Allison, Leach, Meganne E., Dastgir, Jahannaz, Hu, Ying, Mankodi, Ami, Wagner, Kathryn R., Friedman, Neil R., Bönnemann, Carsten G.

    Published 2013
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  14. 14
    Hypoglycemia in patients with congenital muscle disease

    Hypoglycemia in patients with congenital muscle disease by Hayes, Leslie H., Yun, Pomi, Mohassel, Payam, Norato, Gina, Donkervoort, Sandra, Leach, Meganne E., Alvarez, Rachel, Rutkowski, Anne, Shaw, Natalie D., Foley, A. Reghan, Bönnemann, Carsten G.

    Published 2020
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  15. 15
    Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

    Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation by Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.

    Published 2019
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  16. 16
    HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation

    HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation by Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bönnemann, Carsten G.

    Published 2017
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  17. 17
    Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

    Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation by Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bönnemann, Carsten G., Yis, Uluc, Wirth, Brunhilde

    Published 2017
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  18. 18
    Frequency of Births Due to Assisted Reproductive Technology (ART) in Prader-Willi Syndrome

    Frequency of Births Due to Assisted Reproductive Technology (ART) in Prader-Willi Syndrome by Gold, June-Anne, Ruth, Chelsey, Osann, Kathryn, Flodman, Pamela, McManus, Barbara, Lee, Hye-Seung, Donkervoort, Sandra, Khare, Manaswitha, Roof, Elizabeth, Dykens, Elizabeth, Driscoll, Daniel J., Butler, Merlin G., Heinemann, Janalee, Cassidy, Suzanne, Kimonis, Virginia

    Published 2013
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  19. 19
    Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

    Genotype-Phenotype studies of VCP-associated Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia by Mehta, Sarju G., Khare, Manaswitha, Ramani, Rupal, Watts, Giles D. J., Simon, Mariella, Osann, Kathryn E., Donkervoort, Sandra, Dec, Eric, Nalbandian, Angele, Platt, Julia, Pasquali, Marzia, Wang, Annabel, Mozaffar, Tahseen, Smith, Charles D., Kimonis, Virginia E.

    Published 2012
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  20. 20
    Statistical analysis plan of a randomized controlled trial to compare a restrictive strategy to usual care for the effectiveness of cholecystectomy (SECURE trial)

    Statistical analysis plan of a randomized controlled trial to compare a restrictive strategy to usual care for the effectiveness of cholecystectomy (SECURE trial) by Wennmacker, Sarah Z., van Dijk, Aafke H., Drenth, Joost P. H., Donkervoort, Sandra C., Boerma, Djamila, Westert, Gert P., van Laarhoven, Cornelis J. H. M., Boermeester, Marja A., Dijkgraaf, Marcel G. W., de Reuver, Philip R.

    Published 2018
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