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Anne M Connolly

Showing results (31-40 of 118) with videos related to

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Journal of Paediatrics and Child Health|December 31, 2013
'Beyond Milestones': a randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child developmentAnne M Connolly, Clare Cunningham, Adriane J Sinclair, et al.
Nature Genetics|June 23, 2009
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humansFeng Zhang, Mehrdad Khajavi, Anne M Connolly, et al.
Journal of Child Neurology|March 29, 2003
Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletionRaffaele Falsaperla, Giusi Romeo, Anna Sorge, et al.
Trends in Cardiovascular Medicine|July 26, 2016
Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disordersR Brian Sommerville, Margherita Guzzi Vincenti, Kathleen Winborn, et al.
Journal of Paediatrics and Child Health|September 22, 2016
Evaluation of an E-learning resource on approach to the first unprovoked seizureFleur A Le Marne, Hannah McGinness, Rob Slade, et al.
Ultrasound in Medicine & Biology|May 1, 2007
Sensitive ultrasonic detection of dystrophic skeletal muscle in patients with duchenne muscular dystrophy using an entropy-based signal receiverMichael S Hughes, Jon N Marsh, Kirk D Wallace, et al.
Journal of Neuromuscular Diseases|December 31, 2023
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular AtrophyAlayne P Meyer, Anne M Connolly, Kathryn Vannatta, et al.
Eclinicalmedicine|April 22, 2026
Safety and efficacy of intravenous onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy type 1: interim analysis from LT-001, a long-term follow-up study of patients from the START studyMegan A Waldrop, Roberto Bernardo Escudero, Lina Yang, et al.
Annals of Clinical and Translational Neurology|April 7, 2017
<i>PMP22</i> exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1EDavid S Wang, Xingyao Wu, Yunhong Bai, et al.
Journal of Neuromuscular Diseases|May 30, 2023
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular DystrophyAnne M Connolly, Craig M Zaidman, John F Brandsema, et al.
Pageof 12

Showing results (31-40 of 118) with videos related to

Sort By:
Pageof 12
Journal of Paediatrics and Child Health|December 31, 2013
'Beyond Milestones': a randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child developmentAnne M Connolly, Clare Cunningham, Adriane J Sinclair, et al.
Nature Genetics|June 23, 2009
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humansFeng Zhang, Mehrdad Khajavi, Anne M Connolly, et al.
Journal of Child Neurology|March 29, 2003
Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletionRaffaele Falsaperla, Giusi Romeo, Anna Sorge, et al.
Trends in Cardiovascular Medicine|July 26, 2016
Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disordersR Brian Sommerville, Margherita Guzzi Vincenti, Kathleen Winborn, et al.
Journal of Paediatrics and Child Health|September 22, 2016
Evaluation of an E-learning resource on approach to the first unprovoked seizureFleur A Le Marne, Hannah McGinness, Rob Slade, et al.
Ultrasound in Medicine & Biology|May 1, 2007
Sensitive ultrasonic detection of dystrophic skeletal muscle in patients with duchenne muscular dystrophy using an entropy-based signal receiverMichael S Hughes, Jon N Marsh, Kirk D Wallace, et al.
Journal of Neuromuscular Diseases|December 31, 2023
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular AtrophyAlayne P Meyer, Anne M Connolly, Kathryn Vannatta, et al.
Eclinicalmedicine|April 22, 2026
Safety and efficacy of intravenous onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy type 1: interim analysis from LT-001, a long-term follow-up study of patients from the START studyMegan A Waldrop, Roberto Bernardo Escudero, Lina Yang, et al.
Annals of Clinical and Translational Neurology|April 7, 2017
<i>PMP22</i> exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1EDavid S Wang, Xingyao Wu, Yunhong Bai, et al.
Journal of Neuromuscular Diseases|May 30, 2023
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular DystrophyAnne M Connolly, Craig M Zaidman, John F Brandsema, et al.
Pageof 12