Genotype-Phenotype Correlation of Distal 2q37 Deletions.

Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2-9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4.

Connecting lived experiences of pre-nursing students during COVID-19 with learner well-being: A qualitative inquiry.

Aim: To explore pre-nursing students' experiences and identify factors influencing their well-being as learners during COVID-19.

Design: A qualitative descriptive design was used.

Methods: Short answer study data (n = 289) were collected in Fall 2020 as part of a larger IRB-approved survey-based study focused on pre-nursing students.

Effects of genetic counselor disabilities on their professional experiences: A qualitative investigation of North American counselors' perceptions.

The National Society of Genetic Counselors' policies recognize the value of diversity in the profession. Yet North American genetic counselors are very homogeneous with respect to self-identified disabilities. One step towards diversifying the profession is understanding the experiences of genetic counselors who have disabilities.

Non-homologous use of adipose-derived cell and tissue therapies: Osteoarthritis as a case study.

Adipose tissue is widely recognized as an abundant and accessible human tissue that serves as a source of cells and extracellular matrix scaffolds for regenerative surgical applications. Increasingly, orthopedic surgeons are turning to adipose tissue as a resource in their treatment of osteoarthritis and related conditions. In the U.