Results 191 to 200 of about 4,531,433 (247)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Patient experience in community pharmacy services: A scoping review. [PDF]

J Gen Fam Med
Kaneko C, Suzuki S, Tanaka I, Hiruma H, Okada H.   +4 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Correction to "Implementation of Clinical Pharmacy Services in Primary Health Care: A Scoping Review". [PDF]

J Eval Clin Pract
europepmc   +1 more source

Attributes and levels in discrete choice experiments for pharmacy services: A systematic review to inform asthma intervention design. [PDF]

Explor Res Clin Soc Pharm
Rosyida KA, Kristina SA, Ramadona AL, Saini B.   +3 more
europepmc   +1 more source

Noninvasive Diagnosis of Splenosis Using Tc‐99m Heat‐Denatured Red Blood Cell Scintigraphy

American Journal of Hematology, EarlyView.
Natacha Dewarrat, Katharina Auf der Springe, Francesco Grandoni, Rami Hajri, Mathilde Gavillet   +4 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Knowledge, perceptions, and readiness to use electronic pharmacy services among the Syrian population: A cross-sectional study. [PDF]

Digit Health
Alameer MB, Kabbani Z, Alsamara R, Habeeb R, Jawich K.   +4 more
europepmc   +1 more source

Alcohol and Other Drug Vocational Education and Training in Australia: Changes in the Landscape From 2011 to 2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT People impacted by alcohol and other drugs (AOD) are supported across a range of health and social service settings, often by workers in generalist roles who may not have specialist training. Vocational education and training (VET) plays a key role in equipping AOD workers with the knowledge and skills required for practice, yet there is no ...
Kirrilly Thompson, Jane Anne Fischer, Armin Muminovic, Gianluca Di Censo, Olivia Gray, Ashlea Bartram, Jacqueline A. Bowden   +6 more
wiley   +1 more source

Implementation of Clinical Pharmacy Services in Primary Health Care: A Scoping Review. [PDF]

J Eval Clin Pract
Paolinelli JPV, de Alencar T, Rocha KSS, Pereira ML, Dos Santos Júnior GA.   +4 more
europepmc   +1 more source