Results 191 to 200 of about 659,973 (276)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Chronic Anaphylaxis With Indolent Systemic Mastocytosis: A Case Report. [PDF]

Case Rep Hematol
Worth S, George TI, Shaheen DJ, Roche M, Vachhani P.   +4 more
europepmc   +1 more source

Information Security Management Systems (ISMS) on patient information protection within the healthcare industry in Oyo, Nigeria

A E Folorunso
openalex   +1 more source

A scoping review of non‐binary research in “Australian” social sciences: Community, solidarity, resilience and resisting marginalisation

Australian Journal of Social Issues, EarlyView.
Abstract Non‐binary and genderqueer identities are increasingly discussed in public discourse and academia, but there remains a dearth of academic literature centred on non‐binary people's lives and experiences. When non‐binary people are included in research, it is frequently as an additive to explorations of trans identities and subsumed under the ...
Lucy Nicholas, Sal Clark, Chloe Falzon
wiley   +1 more source

Diagnosis, management and the burden of symptoms of mastocytosis from the physician's perspective: A nationwide study. [PDF]

Br J Haematol
Rossignol J, Bouillet L, Bulai-Livideanu C, Barete S, Bruneau J, Gourguechon C, Polivka L, Soria A, Lortholary O, Stanbury T, Bouquillon B, Sauvage C, Javier RM, Hermine O, Arock M, CEREMAST Network.   +15 more
europepmc   +1 more source

Analysis of the Influence of Skills Training on Ships Leadership with an Understanding of the International Safety Management (ISM) Code as a Mediation Variable [PDF]

Darul Prayogo, Moh. Zaenal Arifin, Taruga Runadi, Andi Presetiawan, Hendi Wahyu Rahmana, Reynaldo Satrio Fischa Pratama   +5 more
openalex   +1 more source

Fine–scale structure of the neutral ISM in M81 [PDF]

, 2006
Ioannis Bagetakos, E. Brinks, Fabian Walter, W. J. G. de Blok   +3 more
openalex   +1 more source

Statistical Analysis of Export Waybill Data of Cross-Border E-Commerce Based on ISM Model

, 2023
Dan Huang, Li Li
openalex   +1 more source

The Interface Between Australia's Aged Care System and the National Disability Insurance Scheme: Population Perspectives

Australian Journal of Social Issues, EarlyView.
ABSTRACT The interface between Australia's aged care and disability systems has come into sharper focus with the 2023 Review of the National Disability Insurance Scheme recommendation to retain the upper age limit for entry and the introduction of an age criterion for assessment in the Aged Care Act 2024. Both are set at age 65.
Anna L. Howe
wiley   +1 more source

Image scanning microscopy based on multifocal metalens for sub-diffraction-limited imaging of brain organoids. [PDF]

Light Sci Appl
Jo Y, Park H, Lee S, Yoon H, Lee T, Bak G, Cho H, Park JC, Kim I.   +8 more
europepmc   +1 more source