Results 251 to 260 of about 123,532 (341)

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
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

Surgical treatment of Lenke type 5 curves using vertebral body tethering with double screw-double cord fixation. Clinical and radiological outcomes with minimum 5 years follow-up

open access: yesBrain and Spine
M. Enercan   +9 more
doaj  

Three-dimensional digital design of orthopedic surgery for idiopathic scoliosis deformity: A case series. [PDF]

open access: yesJ Int Med Res
Liu B   +7 more
europepmc   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 ‐Related Disorders to a Syndromic Multiple Tumor Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
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

Paracetamol and its metabolites in children and adults with spinal muscular atrophy – a population pharmacokinetic model

open access: yesBritish Journal of Clinical Pharmacology, Volume 91, Issue 7, Page 2045-2056, July 2025.
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

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

open access: yesClinical Case Reports, Volume 13, Issue 7, July 2025.
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

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