Results 161 to 170 of about 77,916 (268)

An Uncommon Unilateral Grade V Thumb Hypoplasia: A Cadaveric Case Report. [PDF]

open access: yesCureus
Farnum J   +6 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Tendon Transfers [PDF]

open access: yesDeutsches Ärzteblatt international, 2014
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Posterolateral plating increases peroneal tendon thickness without affecting clinical outcomes: a ultrasonographic comparative study of 76 SER ankle fractures. [PDF]

open access: yesEur J Orthop Surg Traumatol
Labronici PJ   +11 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos   +46 more
wiley   +1 more source

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury

open access: yesAnnals of Neurology, EarlyView.
Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen   +14 more
wiley   +1 more source

Role of USG in the evaluation of the wrist and hand

open access: yesIndian Journal of Radiology and Imaging, 2007
Ashwin D Lawande, Mukund S Joshi
doaj   +1 more source

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