Results 181 to 190 of about 87,395 (353)

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca   +13 more
wiley   +1 more source

Outcomes of Epiphysiodesis About the Distal Radius and Distal Ulna. [PDF]

open access: yesHand (N Y)
May CC   +4 more
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

open access: yesClinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari   +7 more
wiley   +1 more source

Avulsion fracture of the supinator crest of the proximal ulna in the context of elbow joint injuries [PDF]

open access: bronze, 2013
Kay Schmidt-Horlohé   +4 more
openalex   +1 more source

Skeletal status and soft tissue composition in astronauts. Tissue and fluid changes by radionuclide absorptiometry in vivo [PDF]

open access: yes
A device has been constructed and tested which provides immediate readout of bone mineral content and bone width from absorptiometric scans with low energy radionuclides.
Cameron, J. R.   +2 more
core   +1 more source

Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava   +71 more
wiley   +1 more source

Primary Cutaneous B‐Cell Lymphomas: An Updated Portrait of Classification, Biology, and Clinical Management

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Primary cutaneous B‐cell lymphomas (CBCL) represent a clinically and biologically heterogeneous group of extranodal non‐Hodgkin lymphomas confined to the skin at the time of diagnosis. They account for approximately 25% of all primary cutaneous lymphomas and are subclassified into distinct entities according to the World Health Organization ...
A. Bernardelli   +5 more
wiley   +1 more source

Failed Primary Fixation of Monteggia Fractures - A Case Series. [PDF]

open access: yesJ Orthop Case Rep
Aiyer S   +5 more
europepmc   +1 more source

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