Results 231 to 240 of about 1,400,848 (384)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

What renewable energy future should we strive for? Assessing renewable energy utopias through Sci-Fi and normative energy ethics. [PDF]

Energy Sustain Soc
van Uffelen N, Wuebben D, Frigo G, Meinhold R, Simone L.   +4 more
europepmc   +1 more source

Toward an “Ethics of Serendipity”: Disrupting Normative Ethical Discourses in Organizations

, 2018
Pauline Fatien Diochon, Renaud Defiebre-Muller, Federico Ignacio Viola   +2 more
openalex   +2 more sources

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Participation, community and affirmation: parent accounts of supporting transgender children in sport and dance participation. [PDF]

Front Sports Act Living
Townley C.
europepmc   +1 more source

Urban ethics: Towards a research agenda on cities, ethics and normativity

, 2019
Eveline Dürr, Moritz Ege, Johannes Moser, Christoph K. Neumann, Gordon M. Winder   +4 more
openalex   +1 more source

The Ethicality of Point-of-Sale Marketing Campaigns: Normative Ethics Applied to Cause-Related Checkout Charities

, 2020
Jay Caulfield, Catharyn Baird, Felissa K. Lee   +2 more
openalex   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Ethical issues in neurosurgery - A scoping review from the EANS Ethico-legal committee. [PDF]

Brain Spine
Westarp E, Hallenberger TJ, Visocchi M, Syrmos N, Broekman MLD, Samprón N, Agboola K, Sandvik U, Balak N, Bolger C, Mathiesen T, Ganau M, Soleman J.   +12 more
europepmc   +1 more source

Dabigatran Concentrations in an Actively Breastfeeding Mother–Infant Dyad: Extending the Evidence for Oral Thromboprophylaxis Postpartum

American Journal of Hematology, EarlyView.
Rasmus W. Green, Aljona Saleh, Pawel Baranczewski   +2 more
wiley   +1 more source