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Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
Molecular Genetics & Genomic Medicine|February 9, 2022
Experiences of children and adolescents living with achondroplasia and their caregiversRenée Shediac, Olga Moshkovich, Heather Gerould, et al.
Frontiers in Endocrinology|February 23, 2026
Automated bone age assessment in rare pediatric growth disorders: a comparative study using DeeplasiaKyra Skaf, Minu Fardipour, Philipp Schmidt, et al.
Journal of Medical Genetics|November 28, 2017
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutationsHirohito Shima, Katrin Koehler, Yumiko Nomura, et al.
American Journal of Hypertension|June 14, 2015
Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase DeficiencyWalter Bonfig, Friedrich-Wilhelm Roehl, Stefan Riedl, et al.
Orphanet Journal of Rare Diseases|December 23, 2018
Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinismAlena Welters, Thomas Meissner, Jürgen Grulich-Henn, et al.
Deutsche Medizinische Wochenschrift (1946)|July 25, 2019
[Medical care of young women with Turner syndrome in Germany]Helmuth-Günther Dörr, Markus Bettendorf, Gerhard Binder, et al.
Journal of the Endocrine Society|April 27, 2022
Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic FocusHendrik Vossschulte, Konrad Mohnike, Klaus Mohnike, et al.
Deutsche Medizinische Wochenschrift (1946)|March 16, 2019
[Life Situation of Young women with Turner Syndrome: Results of a Questionnaire-based Study in Germany]Helmuth-Günther Dörr, Markus Bettendorf, Gerhard Binder, et al.
Bone|October 4, 2024
Meeting report from the 3rd ISCBH-ERN BOND Achondroplasia Workshop on Long Bone Pathology in Children with Achondroplasia, Salzburg, Austria 22nd June 2024Moira S Cheung, Inês Alves, Patricia Carl-Innig, et al.
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