Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectGenetic structure of Europeans: a view from the North-EastBAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cellsCloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase geneNon-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATA genome-wide association study of anorexia nervosa.Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless.An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossKLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronRole of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells.A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heartPhosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-lifeNonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuriaHuman chromosome 7: DNA sequence and biologyEspin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisationRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesGlobal variation in copy number in the human genomeMutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsGenome-wide detection of segmental duplications and potential assembly errors in the human genome sequenceHuman genetics moves from clinic to bench--and backTying malaria and microRNAs: from the biology to future diagnostic perspectivesMutations in DCHS1 cause mitral valve prolapseConnexin-26 mutations in sporadic and inherited sensorineural deafnessMissense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorCloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinasesThe molecular basis of glutamate formiminotransferase deficiencyDSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathwaysPresence of a major WFS1 mutation in Spanish Wolfram syndrome pedigreesIdentification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) geneMutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locusHuman minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndromeHuman nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorderDyrk1A expression pattern supports specific roles of this kinase in the adult central nervous systemMutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patientsConnexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
P50
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P50
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Catalan physician
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Hispaania arst
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Spaans arts
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Spanish physician
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Spanish physician
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dokter asal Spanyol
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medic spaniol
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metge català
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médecin espagnol
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Xavier Estivill Palleja
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill Palleja
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavi Xavier Estivill, Xavier
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Xavier Estivill i Palleja
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill
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Xavier Estivill Palleja
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill i Pallejà
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Xavier Estivill Palleja
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