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William Mackenzie

Showing results (41-50 of 56) with videos related to

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Journal of Pediatric Orthopedics|August 23, 2018
Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular AtrophyKevin A Strauss, Vincent J Carson, Karlla W Brigatti, et al.
American Journal of Medical Genetics. Part A|May 4, 2024
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to dateGretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, et al.
Metabolites|August 14, 2014
Establishment of glycosaminoglycan assays for mucopolysaccharidosesShunji Tomatsu, Tsutomu Shimada, Robert W Mason, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delayWagner A R Baratela, Michael B Bober, George E Tiller, et al.
Molecular Genetics and Metabolism|May 22, 2018
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVAHira Peracha, Kazuki Sawamoto, Lauren Averill, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancyKlane K White, Viviana Bompadre, Michael J Goldberg, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRDeborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.
Molecular Genetics and Metabolism|August 6, 2014
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidosesTsutomu Shimada, Joan Kelly, William A LaMarr, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"Klane K White, Ravi Savarirayan, Michael J Goldberg, et al.
Molecular Genetics and Metabolism|May 21, 2013
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorderEriko Yasuda, Kazunari Fushimi, Yasuyuki Suzuki, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

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Journal of Pediatric Orthopedics|August 23, 2018
Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular AtrophyKevin A Strauss, Vincent J Carson, Karlla W Brigatti, et al.
American Journal of Medical Genetics. Part A|May 4, 2024
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to dateGretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, et al.
Metabolites|August 14, 2014
Establishment of glycosaminoglycan assays for mucopolysaccharidosesShunji Tomatsu, Tsutomu Shimada, Robert W Mason, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delayWagner A R Baratela, Michael B Bober, George E Tiller, et al.
Molecular Genetics and Metabolism|May 22, 2018
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVAHira Peracha, Kazuki Sawamoto, Lauren Averill, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancyKlane K White, Viviana Bompadre, Michael J Goldberg, et al.
Molecular Genetics & Genomic Medicine|August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRDeborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.
Molecular Genetics and Metabolism|August 6, 2014
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidosesTsutomu Shimada, Joan Kelly, William A LaMarr, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"Klane K White, Ravi Savarirayan, Michael J Goldberg, et al.
Molecular Genetics and Metabolism|May 21, 2013
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorderEriko Yasuda, Kazunari Fushimi, Yasuyuki Suzuki, et al.
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