檢索結果 - Jozef Hertecant

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  1. 1
    Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

    Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates 由 Aisha Al‐Shamsi, Jozef Hertecant, Abdul‐Kader Souid, Fatma Al‐Jasmi

    出版 2016
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  2. 2
    Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

    Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011 由 Hager Al Hosani, M. Salah, Hesham Osman, Hassan M Farag, Lobna El Assiouty, Dimah Saade, Jozef Hertecant

    出版 2014
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  3. 3
    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

    Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates 由 Fatma Al‐Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef Hertecant, Fatma Bastaki, Abdul‐Kader Souid

    出版 2012
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  4. 4
    A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

    A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy 由 Ofélia P. Carvalho, Gemma Thornton, Jozef Hertecant, Henry Houlden, Adeline K. Nicholas, James J. Cox, M. Rielly, Lihadh Al‐Gazali, C. Geoffrey Woods

    出版 2010
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  5. 5
    Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

    Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects 由 Remco Franssen, Stephen G. Young, Frank Peelman, Jozef Hertecant, Jeroen A. Sierts, Alinda W.M. Schimmel, André Bensadoun, John J.P. Kastelein, Loren G. Fong, Geesje M. Dallinga‐Thie, Anne P. Beigneux

    出版 2010
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  6. 6
    A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

    A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development 由 Michael S. Nahorski, Lihadh Al‐Gazali, Jozef Hertecant, David J. Owen, Georg H. H. Borner, Ya‐Chun Chen, Caroline Benn, Ofélia P. Carvalho, Samiha S. Shaikh, Anne M. Phelan, Margaret S. Robinson, Stephen Royle, C. Geoffrey Woods

    出版 2015
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  7. 7
    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

    Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies 由 Lance H. Rodan, Marissa Hauptman, Alissa M. D’Gama, Anita Qualls, Siqi Cao, Karin Tuschl, Fatma Al‐Jasmi, Jozef Hertecant, Susan J. Hayflick, Marianne Wessling‐Resnick, Edward Yang, Gerard T. Berry, Andrea Gropman, Alan D. Woolf, Pankaj B. Agrawal

    出版 2018
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  8. 8
    Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

    Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease 由 Melissa Lee, Briana Vecchio-Pagán, Neeraj Sharma, Abdül Waheed, Xiaopeng Li, Karen S. Raraigh, Sarah M. Robbins, Sangwoo T. Han, Arianna Franca, Matthew J. Pellicore, Taylor A. Evans, Kristin M. Arcara, Hien Anh Thi Nguyen, Shan Luan, Deborah Belchis, Jozef Hertecant, Joseph Zabner, William S. Sly, Garry R. Cutting

    出版 2016
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  9. 9
    <i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

    <i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome 由 Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Barun Das, Jozef Hertecant, Lynn Greenhalgh, Trevor Cole, Vered Pinsk, Baruch Yerushalmi, Ödül Eğritaş, Michael Yourshaw, Erick Hernández, Sandy Oesterreicher, Sandhia Naik, Ian R. Sanderson, Irené Axelsson, Daniel Agardh, C. Richard Boland, Martı́n G. Martı́n, Christopher D. Putnam, Mamata Sivagnanam

    出版 2018
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  10. 10
    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

    Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia 由 Jennifer E. Below, Dawn Earl, Kathryn M. Shively, Margaret J. McMillin, Joshua D. Smith, Emily H. Turner, Mark J. Stephan, L.I. Al-Gazali, Jozef Hertecant, David Chitayat, Sheila Unger, Daniel H. Cohn, Deborah Krakow, James M. Swanson, Elaine M. Faustman, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    出版 2012
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  11. 11
    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects 由 Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong

    出版 2017
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  12. 12
    The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

    The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG 由 Silvia Radenkovic, Matthew Bird, Tim L. Emmerzaal, Sunnie Wong, Catarina Felgueira, Kyle M. Stiers, Leila Sabbagh, Nastassja Himmelreich, Gernot Poschet, Petra Windmolders, Jan Verheijen, Peter Witters, Ruqaiah Altassan, Tomáš Honzík, Tuba Eminoğlu, Phillip M. James, Andrew C. Edmondson, Jozef Hertecant, Tamás Kozicz, Christian Thiel, Pieter Vermeersch, David Cassiman, Lesa J. Beamer, Éva Morava, Bart Ghesquière

    出版 2019
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  13. 13
    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations 由 Martina Huemer, Daniela Karall, Anna Schossig, José E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi‐Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles Marques Lourenço, Sabine Scholl‐Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

    出版 2015
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  14. 14
    Oral D-galactose supplementation in PGM1-CDG

    Oral D-galactose supplementation in PGM1-CDG 由 Sunnie Wong, Therese Gadomski, Monique van Scherpenzeel, Tomáš Honzík, Hana Hansíková, Katja S. Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut‐Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicky Peeters, Stefanie Perez, David D Nguyen, Kea Crivelly, Tim L. Emmerzaal, K. Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, François Foulquier, Gernot Poschet, Amanda M. Ackermann, Miao He, Dirk J. Lefeber, Christian Thiel, Tamás Kozicz, Éva Morava

    出版 2017
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  15. 15
    Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency

    Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency 由 Mabel Yau, Shozeb Haider, Ahmed Khattab, Ling Chen, Mehr Mathew, Samir Zaidi, Madison Bloch, Monica Patel, Sinead Ewert, Wafa Abdullah, A. Toygar, Vitalii Mudryi, Maryam Al Badi, Mouch Alzubdi, Robert C. Wilson, Hanan Said Al Azkawi, Hatice Özdemir, Wahid Abu‐Amer, Jozef Hertecant, Maryam Razzaghy‐Azar, John W. Funder, Aisha Al Senani, Li Sun, Se‐Min Kim, Tony Yuen, Mone Zaidi, Maria I. New

    出版 2017
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  16. 16
    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome 由 Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al‐Gazali, Natalie Canham, Víctor Faúndes, Frances Flinter, Jozef Hertecant, Muriel Holder‐Espinasse, Brian R. Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard C. Trembath, David A. van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka

    出版 2020
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  17. 17
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort 由 Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane, María Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego‐Álvarez, Michal Zawada, Krishna Kumar Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius‐Ionuţ Iuraşcu, Claudia Cozma, Florian Vogel, Amal Alhashem, Jozef Hertecant, Aisha Al‐Shamsi, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed Al Balwi, Majid Alfadhel, Nouriya Al‐Sannaa, William Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer

    出版 2020
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  18. 18
    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death 由 Mohammad K. Eldomery, Zeynep Coban‐Akdemir, F.‐Nora Vögtle, Wu‐Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna Venkatesh Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar Abdul‐Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton

    出版 2016
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  19. 19
    Can untreated PKU patients escape from intellectual disability? A systematic review

    Can untreated PKU patients escape from intellectual disability? A systematic review 由 Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Mirosław Bik-Multanowski, Nenad Blau, Fatma Derya Bulut, Kari Casas, Bożena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Giżewska, Gwendolyn Gramer, Jozef Hertecant, Carla E. M. Hollak, Jens Veilemand Jørgensen, Daniela Karall, Yuval E. Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Önenli Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljković, F. K. Trefz, Uşurelu Natalia, Callum Wilson, Clara D. van Karnebeek, William Hanley, Francjan J. van Spronsen

    出版 2018
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  20. 20
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy 由 Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

    出版 2012
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