Search Results - Klaus Mohnike
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Editorial: The problem of childhood hypoglycaemia by Indraneel Banerjee, Klaus Mohnike
Published in Frontiers in Endocrinology (2023-05-01)Get full text
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Syndromic forms of congenital hyperinsulinism by Martin Zenker, Klaus Mohnike, Katja Palm
Published in Frontiers in Endocrinology (2023-03-01)Get full text
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Coping and quality of life of parents of children with achondroplasia—a narrative review by Adekunle Adedeji, Adekunle Adedeji, Stefanie Witt, Stefanie Witt, Florian Innig, Inês Alves, Chiara Provasi, Marco Sessa, Klaus Mohnike, Klaus Mohnike, Julia Quitmann, Julia Quitmann
Published in Frontiers in Medicine (2025-05-01)Get full text
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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism by Ilse Wieland, Ina Schanze, Ina Marianti Felgendreher, Winfried Barthlen, Silke Vogelgesang, Klaus Mohnike, Martin Zenker
Published in Frontiers in Endocrinology (2022-10-01)Get full text
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Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals by Behnam Javanmardi, Rebekah L. Waikel, Tinatin Tkemaladze, Shahida Moosa, Alexander Küsshauer, Jean Tori Pantel, Minu Fardipour, Peter Krawitz, Benjamin D. Solomon, Klaus Mohnike
Published in Orphanet Journal of Rare Diseases (2025-07-01)Get full text
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Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism by Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow, Reinhard W. Holl
Published in Orphanet Journal of Rare Diseases (2018-12-01)Get full text
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Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide... by Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall
Published in Orphanet Journal of Rare Diseases (2022-06-01)Get full text
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The first European consensus on principles of management for achondroplasia by Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike
Published in Orphanet Journal of Rare Diseases (2021-07-01)Get full text
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Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patien... by Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike
Published in Endocrine Connections (2019-01-01)Get full text
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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations by Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike
Published in Orphanet Journal of Rare Diseases (2022-07-01)Get full text
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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis by Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa
Published in Orphanet Journal of Rare Diseases (2023-07-01)Get full text
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Recommendations for management of infants and young children with achondroplasia: Does clinical practice align? by Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Svein Fredwall, Melita Irving, Philip Kunkel, Christian Lampe, Ekkehart Lausch, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa
Published in Orphanet Journal of Rare Diseases (2025-03-01)Get full text
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P339: Vosoritide therapy in patients with achondroplasia: Early experience and practical considerations for clinical practice by Oliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, Michael Bober, Ricki Carroll, Sérgio Sousa, David Deyle, Maha Faden, Gabriele Hartmann, Aaron Huser, Janet Legare, Klaus Mohnike, Tilman Rohrer, Frank Rutsch, Pamela Smith, Andre Travessa, Angela Verado, Klane White, William Wilcox, Julie Hoover-Fong
Published in Genetics in Medicine Open (2023-01-01)Get full text
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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum by Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Melita Irving, Philip Kunkel, Núria Madureira, Mohamad Maghnie, Josef Milerad, Klaus Mohnike, Geert Mortier, Lino Nobili, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa
Published in Orphanet Journal of Rare Diseases (2025-05-01)Get full text
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The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool by Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra
Published in Bone Reports (2021-04-01)Get full text
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