Results 251 to 260 of about 123,532 (341)
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto+52 more
wiley +1 more source
Three-dimensional digital design of orthopedic surgery for idiopathic scoliosis deformity: A case series. [PDF]
Liu B+7 more
europepmc +1 more source
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain+11 more
wiley +1 more source
Strong support systems foster positive self-image in patients with scoliosis. [PDF]
Glahn Castille M, Resendiz Ortega S.
europepmc +1 more source
Abstract Aims The aim of the study was to investigate whether differences in paracetamol pharmacokinetics (PK) between spinal muscular atrophy (SMA) patients and healthy controls (HC) could be attributed to specific clinical covariates. Methods Nonlinear mixed‐effects modelling (NONMEM 7.4) was used to develop a population PK model, explore covariates ...
Qiaolin Zhao+14 more
wiley +1 more source
Two-level versus multi-level fusion in posterior hemivertebra resection for congenital early-onset scoliosis: a 10-year comparative analysis of clinical outcomes and complication rates. [PDF]
Peng Z+5 more
europepmc +1 more source
ABSTRACT Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition.
Eimear Loftus+7 more
wiley +1 more source