Results 231 to 240 of about 246,882 (303)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Contraindications of femoral implants in primary total hip arthroplasty : legal implications and strategies for orthopaedic surgeons. [PDF]

Bone Jt Open
Manzo MA, Pentland V, Khoshbin A, Atrey A.   +3 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Ethical Challenges of Acute Pain Management: A Scoping Review. [PDF]

Health Sci Rep
Zavareh MA, Mashkoori A, Motamed-Jahromi M, Afshar L, Aminnejad R, Madani M, Parvaresh-Masoud M.   +6 more
europepmc   +1 more source

Subtotal Versus Total Splenectomy in Children With Sickle Cell Disease: Clinical Outcomes and Splenic Function Assessed by Pocked Red Blood Cell Count

American Journal of Hematology, EarlyView.
Alma Al Sibaaie, Abdoulaye Sissoko, Carmen Capito, Christophe Chardot, Mariane de Montalembert, Valentine Brousse, Joséphine Brice, Martina Bevacqua, Camille Roussel, Lucie Dumas, Astan Cissé, Pierre Buffet, Slimane Allali   +12 more
wiley   +1 more source

Community perceptions of socio-economic, environmental, and governance dimensions of manganese mining in Serenje District, Zambia. [PDF]

Dialogues Health
Mwape M, Mfungo M, Mulwanda C.
europepmc   +1 more source

Forensic-psychiatric and medico-legal challenges in euthanasia and assisted suicide for patients with mental disorders: balancing autonomy, vulnerability, and professional responsibility. [PDF]

Front Psychiatry
Tripi D, Giantesani M, Arena JF, Ferracuti S.   +3 more
europepmc   +1 more source

Ethical and Legal Implications of Implementing AI in Gastrointestinal Endoscopy. [PDF]

Dig Endosc
El-Sayed A, Geelani S, El-Sayed S, Choudry HA, Lovat LB, Ahmad OF.   +5 more
europepmc   +1 more source

Slow Harm After Dobbs v. Jackson Women's Health Organization: An Analytic Scoping Review of How Data and Surveillance Infrastructures Reshape Emergency Obstetric Care. [PDF]

Cureus
Ajit A, Reddy V.
europepmc   +1 more source