Results 241 to 250 of about 125,929 (352)

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

open access: yesClinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç   +8 more
wiley   +1 more source

Internal closure of a posterior perforation using amniotic membrane: A novel surgical technique

open access: yes
Acta Ophthalmologica, EarlyView.
J. S. Suwandi   +7 more
wiley   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova   +6 more
wiley   +1 more source

Early neurodevelopmental outcome in newborns with mild hypoxic‐ischaemic encephalopathy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Aim To describe the natural history of newborn children with mild hypoxic‐ischaemic encephalopathy in the first year of life. Method This was a multicentre, prospective observational study involving five neonatal intensive care units in an Italian region using both structured clinical and neurophysiological assessments according to the Italian Society ...
Domenico M. Romeo   +16 more
wiley   +1 more source

Immunomodulatory effects of primed amniotic fluid-derived mesenchymal stem/stromal cells with IFN-γ from unexplained recurrent miscarriage sources. [PDF]

open access: yesSci Rep
Hoseini SM   +8 more
europepmc   +1 more source

No microorganism was detected in amniotic fluid of healthy pregnancies from the second trimester to the delivery [PDF]

open access: gold
Yu Liu   +8 more
openalex   +1 more source

Anatomy of spinal CSF loss in the American alligator (Alligator mississippiensis)

open access: yesJournal of Anatomy, Volume 246, Issue 4, Page 575-584, April 2025.
India ink introduced into the cranial cerebrospinal fluid (CSF) compartment of Alligator diffuses along the spinal cord and exits the spinal compartment using perineural flow, resulting in a prominent “ink cuff” forming at the base of the spinal nerve. In Alligator, the region of the ink cuff is drained by a small lymphatic vessel.
Hadyn DeLeeuw   +5 more
wiley   +1 more source

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