Search Results - "O'Leary, Melanie"

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Authors: Donkervoort, Sandra Mohassel, Payam O'Leary, Melanie et al.

Source: Annals of Clinical & Translational Neurology. Mar2024, Vol. 11 Issue 3, p629-640. 12p.

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

Authors: Del-Pozo-Rodriguez, Jordi Tilly, Peggy Lecat, Romain et al.

Source: Brain: A Journal of Neurology; Sep2025, Vol. 148 Issue 9, p3407-3421, 15p

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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Authors: Ranta‐aho, Johanna Felice, Kevin J. Jonson, Per Harald et al.

Source: Annals of Clinical & Translational Neurology. Sep2024, Vol. 11 Issue 9, p2392-2405. 14p.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Authors: Verdura, Edgard Rodríguez-Palmero, Agustí Vélez-Santamaria, Valentina et al.

Source: Brain: A Journal of Neurology; Sep2021, Vol. 144 Issue 9, p2659-2669, 11p

Abstract author index of the ISPD 26th international conference on prenatal diagnosis and therapy, montréal, Canada, 20–22 June 2022.

Source: Prenatal diagnosis Jan2023 Supplement 1; Vol. 43.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0197-3851

International Human Rights: Perspectives From Ireland

Authors: Suzanne Egan

Resource Type: eBook.

Subjects: Human rights--Ireland

Categories: LAW / Civil Rights, POLITICAL SCIENCE / Human Rights

Respiratory Nurses SIG Oral Sessions.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Cell Biology/Immunology SIG Oral Session 2. Signalling in the Airways.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Tobacco Control/COPD SIGs Oral Session.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

OLIV SIG Oral Session.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Ann Woolcock Young Investigator Award.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Asthma & Allergy SIG: Oral Session 1.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Paediatric SIG Oral Session.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Primary Care SIG Oral Session.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Cystic Fibrosis SIG Oral Session.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

COPD SIG Oral Session 2.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Cell Biology/Immunology SIG Oral Session 1: Inflammation.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

COPD SIG: Oral Session 1.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799

Respiratory Infectious Diseases SIG Oral Session.

Source: Respirology: official journal of the Asian Pacific Society of Respirology Apr2009 Supplement 1; Vol. 14.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1323-7799