Showing 181 - 200 results of 639 for search '"Orphanet Journal of Rare Diseases"', query time: 0.08s Refine Results
  1. 181
    Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

    Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis by Hongdan Wang, Yue Gao, Litao Qin, Mengting Zhang, Weili Shi, Zhanqi Feng, Liangjie Guo, Bofeng Zhu, Shixiu Liao

    Published 2023-05-01
    “…Orphanet Journal of Rare Diseases…”
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  2. 182
    The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function

    The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function by Anne Lørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, Christian Nielsen, Bibi Lange, Annette Dam Fialla, Pernille Just Vinholt

    Published 2023-11-01
    “…Orphanet Journal of Rare Diseases…”
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  3. 183
    Prognostic factors for the long term outcome after surgical celiac artery decompression in MALS

    Prognostic factors for the long term outcome after surgical celiac artery decompression in MALS by Anna Woestemeier, Alexander Semaan, Andreas Block, Jan Arensmeyer, Jonas Dohmen, Alexander Kania, Frauke Verrel, Martin Mücke, Jörg C. Kalff, Philipp Lingohr

    Published 2023-10-01
    “…Orphanet Journal of Rare Diseases…”
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  4. 184
    Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia

    Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia by Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl, Stephan Klebe

    Published 2024-01-01
    “…Orphanet Journal of Rare Diseases…”
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  5. 185
    Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

    Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders by Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik

    Published 2024-02-01
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  6. 186
    Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023

    Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journa... by Kristina Klintö, Magnus Becker

    Published 2024-04-01
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  7. 187
    Rett syndrome in Ireland: a demographic study

    Rett syndrome in Ireland: a demographic study by Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes, Daniela Tropea

    Published 2024-01-01
    “…Orphanet Journal of Rare Diseases…”
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  8. 188
    Clinical and genetic spectrum of GSD type 6 in Korea

    Clinical and genetic spectrum of GSD type 6 in Korea by Jong Woo Hahn, Heerah Lee, Moon Woo Seong, Gyeong Hoon Kang, Jin Soo Moon, Jae Sung Ko

    Published 2023-06-01
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  9. 189
    The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

    The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers by Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch

    Published 2024-03-01
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  10. 190
    Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey

    Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey by Jennifer Jones, Marie Cruddas, Amy Simpson, Nick Meade, Daphnee Pushparajah, Michelle Peter, Amy Hunter

    Published 2024-02-01
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  11. 191
    The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

    The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects by Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler

    Published 2024-02-01
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  12. 192
    Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

    Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study by Meike Mund, Natalie Uhlenbusch, Franziska Rillig, Christina Weiler-Normann, Theresia Herget, Christian Kubisch, Bernd Löwe, Christoph Schramm

    Published 2023-04-01
    “…Orphanet Journal of Rare Diseases…”
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  13. 193
    Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

    Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families by Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi

    Published 2023-11-01
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  14. 194
    Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency

    Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency by Peter Kühnen, Martin Wabitsch, Julia von Schnurbein, Costel Chirila, Usha G. Mallya, Patrick Callahan, Ari Gnanasakthy, Christine Poitou, Philipp M. Krabusch, Murray Stewart, Karine Clément

    Published 2022-02-01
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  15. 195
    Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia

    Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia by Xunzhe Yang, Xiaohai Sun, Qing Liu, Liyang Liu, Jinyue Li, Zhengyi Cai, Kang Zhang, Shuangwu Liu, Di He, Dongchao Shen, Mingsheng Liu, Liying Cui, Xue Zhang

    Published 2022-11-01
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  16. 196
    Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

    Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants by Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

    Published 2023-08-01
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  17. 197
    Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

    Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome by Dmitrii Polokhov, Daria Fedorova, Anastasiya Ignatova, Evgeniya Ponomarenko, Elena Rashevskaya, Alexey Martyanov, Nadezhda Podoplelova, Maxim Aleksenko, Irina Mersiyanova, Elena Seregina, Aleksandr Poletaev, Ekaterina Truchina, Elena Raykina, Svetlana Plyasunova, Galina Novichkova, Pavel Zharkov, Mikhail Panteleev

    Published 2023-04-01
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  18. 198
    Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive?

    Orphan devices: yesterday is history; tomorrow is mystery: towards a European orphan device directive? by Marc M Dooms

    Published 2016-03-01
    “…Orphanet Journal of Rare Diseases…”
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  19. 199
    Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management

    Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management by Dhyna Thorel, Saskia Ingen-Housz-Oro, Daniel Benaïm, Vincent Daien, Eric Gabison, Valentine Saunier, Laurence Béral, David Touboul, Dominique Brémond-Gignac, Matthieu Robert, Robin Vasseur, Gérard Royer, Olivier Dereure, Brigitte Milpied, Claire Bernier, Anne Welfringer-Morin, Christine Bodemer, Nadège Cordel, Marie Tauber, Carole Burillon, Marion Servant, Chloe Couret, Bertrand Vabres, Florence Tétart, Myriam Cassagne, Marie-Ange Kuoch, Marc Muraine, Agnès Delcampe, Julie Gueudry

    Published 2023-03-01
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  20. 200
    Financing repurposed drugs for rare diseases: a case study of Unravel Biosciences

    Financing repurposed drugs for rare diseases: a case study of Unravel Biosciences by Bechara Abouarab, Christian Bazarian, Zied Ben Chaouch, Andrew W. Lo, Guillermo Mourenza Gonzalez, Richard Novak, Frederic Vigneault

    Published 2023-09-01
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