Results 241 to 250 of about 275,624 (288)
Safety and efficacy of a feed additive consisting of <i>Lacticaseibacillus huelsenbergensis</i> DSM 115424 for all animal species (Lactosan GmbH & Co. KG). [PDF]
EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP) +19 more
europepmc +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
The Supreme Court of Canada interprets the fitness to stand trial test in R v. Bharwani. [PDF]
Curry D, Quinn J.
europepmc +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Do-not-attempt-cardiopulmonary resuscitation decisions in critical care: The gap between theory and practice. [PDF]
Nandhabalan P +6 more
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Introduction to the Special Issue: Social Control, Housing and the Law. [PDF]
Slingenberg L, Vols M.
europepmc +1 more source

