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Mental retardation in Duchenne muscular dystrophyA novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Single median maxillary central incisor: new data and mutation review.High prevalence of methicillin resistance and PVL genes among Staphylococcus aureus isolates from the nares and skin lesions of pediatric patients with atopic dermatitis.Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry.p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.Clinical and radiological repercussions of plexiform neurofibroma in the pelvic region.Dental findings and oral health status in patients with mucopolysaccharidosis: a case series.Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.[Newborn hearing screening in Rio de Janeiro's municipal network, Brazil].Profile of patients assessed for cochlear implants.A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.Moderately progressive Ullrich congenital muscular dystrophyClinical and biochemical studies in mucopolysaccharidosis type II carriersClinical and biochemical study of 28 patients with mucopolysaccharidosis type VIConcurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunctionSerum IgE levels in neurofibromatosis 1Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marcia G Ribeiro
@nl
Marcia G Ribeiro
@sl
Marcia G. Ribeiro
@en
Marcia G. Ribeiro
@es
type
label
Marcia G Ribeiro
@nl
Marcia G Ribeiro
@sl
Marcia G. Ribeiro
@en
Marcia G. Ribeiro
@es
prefLabel
Marcia G Ribeiro
@nl
Marcia G Ribeiro
@sl
Marcia G. Ribeiro
@en
Marcia G. Ribeiro
@es
P106
P1153
8091993200
P21
P31
P496
0000-0001-8906-0189