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A Huebner

Showing results (71-80 of 115) with videos related to

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Neuropediatrics|July 13, 2004
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ geneJ S Müller, S Petrova, R Kiefer, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndromeN Di Donato, A Riess, K Hackmann, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|August 10, 2004
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthoodM C Walter, G Dekomien, B Schlotter-Weigel, et al.
Genome Research|October 24, 2000
High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked regionH Lee, E Choi, Y Seomun, et al.
The Journal of Clinical Endocrinology and Metabolism|December 12, 2001
Relative contributions of inferior petrosal sinus sampling and pituitary imaging in the investigation of children and adolescents with ACTH-dependent Cushing's syndromeA Lienhardt, A B Grossman, J E Dacie, et al.
Hormone Research|June 16, 2001
Cushing's disease in childhood: presentation, investigation, treatment and long-term outcomeM O Savage, A Lienhardt, M C Lebrethon, et al.
European Journal of Neurology|March 4, 2008
Novel RYR1 missense mutation causes core rod myopathyM von der Hagen, W Kress, G Hahn, et al.
Clinical Genetics|May 8, 2010
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndromeC Palka, R Giuliani, F Brancati, et al.
Cardiovascular and Interventional Radiology|February 19, 2025
Genicular Artery Embolization in Moderate to Severe Knee Osteoarthritis: Technique, Safety and Clinical OutcomeA Taheri Amin, I Frommhold, A Huebner, et al.
Applied Clinical Informatics|June 9, 2021
Disparities in Telemedicine Access: A Cross-Sectional Study of a Newly Established Infrastructure during the COVID-19 PandemicVivian Hsiao, Thevaa Chandereng, Robin L Lankton, et al.
Pageof 12

Showing results (71-80 of 115) with videos related to

Sort By:
Pageof 12
Neuropediatrics|July 13, 2004
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ geneJ S Müller, S Petrova, R Kiefer, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndromeN Di Donato, A Riess, K Hackmann, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|August 10, 2004
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthoodM C Walter, G Dekomien, B Schlotter-Weigel, et al.
Genome Research|October 24, 2000
High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked regionH Lee, E Choi, Y Seomun, et al.
The Journal of Clinical Endocrinology and Metabolism|December 12, 2001
Relative contributions of inferior petrosal sinus sampling and pituitary imaging in the investigation of children and adolescents with ACTH-dependent Cushing's syndromeA Lienhardt, A B Grossman, J E Dacie, et al.
Hormone Research|June 16, 2001
Cushing's disease in childhood: presentation, investigation, treatment and long-term outcomeM O Savage, A Lienhardt, M C Lebrethon, et al.
European Journal of Neurology|March 4, 2008
Novel RYR1 missense mutation causes core rod myopathyM von der Hagen, W Kress, G Hahn, et al.
Clinical Genetics|May 8, 2010
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndromeC Palka, R Giuliani, F Brancati, et al.
Cardiovascular and Interventional Radiology|February 19, 2025
Genicular Artery Embolization in Moderate to Severe Knee Osteoarthritis: Technique, Safety and Clinical OutcomeA Taheri Amin, I Frommhold, A Huebner, et al.
Applied Clinical Informatics|June 9, 2021
Disparities in Telemedicine Access: A Cross-Sectional Study of a Newly Established Infrastructure during the COVID-19 PandemicVivian Hsiao, Thevaa Chandereng, Robin L Lankton, et al.
Pageof 12