about
Development and validation of a multiplex-PCR assay for X-linked intellectual disability.FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesUnraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy ScreeningLAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patientsMutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidismMutational Analysis of an X-Linked Adrenoleukodystrophy (ALD) Patient with Detectable ALD ProteinX-linked adrenoleukodystrophy in patients with idiopathic addison diseaseGordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge
P50
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P50
description
Forscher
@de
chercheur
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investigador
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researcher
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wetenschapper
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հետազոտող
@hy
研究者
@zh
name
Jorge, P.
@ast
Jorge, P.
@en
Jorge, P.
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type
label
Jorge, P.
@ast
Jorge, P.
@en
Jorge, P.
@nl
altLabel
Paula Jorge
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Jorge, P.
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Jorge, P.
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Jorge, P.
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P106
P1153
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P21
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0000-0002-6507-222X