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Ultrasound in Medicine & Biology
|
December 17, 2008
Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity
Sigrid Pillen, Ramon O Tak, Machiel J Zwarts, et al.
Orphanet Journal of Rare Diseases
|
August 7, 2021
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study
Bianca M L Stelten, Maria Teresa Dotti, Aad Verrips, et al.
Nutrients
|
November 14, 2023
Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis
Soumia Majait, Emma C E Meessen, Frederic Maxime Vaz, et al.
Journal of Inherited Metabolic Disease
|
June 27, 2022
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Lisette H Koens, Inge Tuitert, Hans Blokzijl, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 18, 2022
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Frédéric M Vaz, Youssra Jamal, Rob Barto, et al.
Brain : a Journal of Neurology
|
March 8, 2012
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice
Rinse Klooster, Jaap J Plomp, Maartje G Huijbers, et al.
Neuromuscular Disorders : NMD
|
April 10, 2013
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands
Xenia L Stalpers, Aad Verrips, Bwee Tien Poll-The, et al.
Clinical Genetics
|
March 29, 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Leroy Ten Dam, Wendy S Frankhuizen, Wim H J P Linssen, et al.
American Journal of Human Genetics
|
May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy
Kornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
European Journal of Human Genetics : EJHG
|
November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
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of 7
Search research articles
Search
Showing results (51-60 of 62) with videos related to
Sort By:
Page
of 7
Ultrasound in Medicine & Biology
|
December 17, 2008
Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity
Sigrid Pillen, Ramon O Tak, Machiel J Zwarts, et al.
Orphanet Journal of Rare Diseases
|
August 7, 2021
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study
Bianca M L Stelten, Maria Teresa Dotti, Aad Verrips, et al.
Nutrients
|
November 14, 2023
Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis
Soumia Majait, Emma C E Meessen, Frederic Maxime Vaz, et al.
Journal of Inherited Metabolic Disease
|
June 27, 2022
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Lisette H Koens, Inge Tuitert, Hans Blokzijl, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 18, 2022
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Frédéric M Vaz, Youssra Jamal, Rob Barto, et al.
Brain : a Journal of Neurology
|
March 8, 2012
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice
Rinse Klooster, Jaap J Plomp, Maartje G Huijbers, et al.
Neuromuscular Disorders : NMD
|
April 10, 2013
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands
Xenia L Stalpers, Aad Verrips, Bwee Tien Poll-The, et al.
Clinical Genetics
|
March 29, 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Leroy Ten Dam, Wendy S Frankhuizen, Wim H J P Linssen, et al.
American Journal of Human Genetics
|
May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy
Kornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
European Journal of Human Genetics : EJHG
|
November 27, 2014
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, et al.
Page
of 7