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Catherine Breen

Showing results (21-30 of 36) with videos related to

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American Journal of Medical Genetics. Part A|March 21, 2019
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBPSiddharth Banka, Rebecca Sayer, Catherine Breen, et al.
PLOS Global Public Health|May 10, 2023
An evaluation of the introduction of telehealth for remote antenatal and postnatal contacts in Bangladesh and Lao People's Democratic Republic during the COVID-19 pandemicSabera Turkmani, Rachel M Smith, Annie Tan, et al.
Orphanet Journal of Rare Diseases|June 18, 2026
Co-development of a genetic care pathway for ALS: real-world perspectives from the North of EnglandClementine Wood, Georgia Brown, Kirsten Chalk, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|March 13, 2026
Direct single dose mass delabelling of antibiotic allergy in pediatricsSheena Coyne, Aideen Byrne, Amber Gill, et al.
Neuromuscular Disorders : NMD|November 30, 2020
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporterPedro M Rodríguez Cruz, Imelda Hughes, Adnan Manzur, et al.
Current Biology : CB|November 3, 2022
Permanent daylight saving time would reduce deer-vehicle collisionsCalum X Cunningham, Tristan A Nuñez, Yasmine Hentati, et al.
Molecular Genetics and Metabolism|May 24, 2016
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIASimon A Jones, Catherine Breen, Fiona Heap, et al.
Journal of Inherited Metabolic Disease|May 28, 2021
High dose genistein in Sanfilippo syndrome: A randomised controlled trialArunabha Ghosh, Stewart Rust, Kia Langford-Smith, et al.
Hepatology (Baltimore, Md.)|January 26, 2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage diseaseManisha Balwani, Catherine Breen, Gregory M Enns, et al.
Circulation. Genomic and Precision Medicine|November 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart SyndromeClément Sauvestre, Amel Bouchatal, Claire Beneteau, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|March 21, 2019
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBPSiddharth Banka, Rebecca Sayer, Catherine Breen, et al.
PLOS Global Public Health|May 10, 2023
An evaluation of the introduction of telehealth for remote antenatal and postnatal contacts in Bangladesh and Lao People's Democratic Republic during the COVID-19 pandemicSabera Turkmani, Rachel M Smith, Annie Tan, et al.
Orphanet Journal of Rare Diseases|June 18, 2026
Co-development of a genetic care pathway for ALS: real-world perspectives from the North of EnglandClementine Wood, Georgia Brown, Kirsten Chalk, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|March 13, 2026
Direct single dose mass delabelling of antibiotic allergy in pediatricsSheena Coyne, Aideen Byrne, Amber Gill, et al.
Neuromuscular Disorders : NMD|November 30, 2020
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporterPedro M Rodríguez Cruz, Imelda Hughes, Adnan Manzur, et al.
Current Biology : CB|November 3, 2022
Permanent daylight saving time would reduce deer-vehicle collisionsCalum X Cunningham, Tristan A Nuñez, Yasmine Hentati, et al.
Molecular Genetics and Metabolism|May 24, 2016
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIASimon A Jones, Catherine Breen, Fiona Heap, et al.
Journal of Inherited Metabolic Disease|May 28, 2021
High dose genistein in Sanfilippo syndrome: A randomised controlled trialArunabha Ghosh, Stewart Rust, Kia Langford-Smith, et al.
Hepatology (Baltimore, Md.)|January 26, 2013
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage diseaseManisha Balwani, Catherine Breen, Gregory M Enns, et al.
Circulation. Genomic and Precision Medicine|November 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart SyndromeClément Sauvestre, Amel Bouchatal, Claire Beneteau, et al.
Pageof 4