Scielo RSS <![CDATA[Nascer e Crescer]]> http://scielo.pt/rss.php?pid=0872-075420140002&lang=pt vol. 23 num. lang. pt <![CDATA[SciELO Logo]]> http://scielo.pt/img/en/fbpelogp.gif http://scielo.pt <![CDATA[<b>X-Chromosome</b>: <b>Genetic Framing</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200001&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>X-Imbalances big and small</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200002&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Unravelling the X Files</b>: <b>Challenges and Dilemmas</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200003&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>An Introduction to X-linked IMDS</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200004&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Doença hereditárias do metabolismo</b>: <b>experiência clínica na terapêutica</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200005&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>XX, doente ou portadora?</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200006&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Antisense-mediated exon skipping for duchenne muscular dystrophy</b>: <b>clinical trials and beyond</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200007&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Discovering “X” in the myopathic equation</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200008&lng=pt&nrm=iso&tlng=pt <![CDATA[<b><i>FMR1 </i></b><b>associated pathologies</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200009&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Genetic counseling</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200010&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Ética e genética</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200011&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Um passado com futuro</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200012&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Study of the FMR1 gene structure among women with ovarian dysfunction from the basque country</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200013&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Investigation of X-chromosome inactivation patterns</b>: <b>a valuable tool in genetic diagnosis</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200014&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Next generation fragile-X testing</b>: <b>getting away from southern blots</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200015&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Portuguese patient registry for duchenne/ becker muscular dystrophy</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200016&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>“Entre os genes e a mente” síndroma de Turner e manifestações psicopatológicas</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200017&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Craniofrontonasal syndrome</b>: <b>case report</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200018&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Translocação (X;10) aparentemente equilibrada <i>de novo</i> no sexo feminino</b>: <b>caso clínico</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200019&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Estratégia utilizada no estudo piloto para o rastreio neonatal da fibrose quística</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200020&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>XL-EDMD genotypic spectrum among portuguese patients</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200021&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>MX-linked centronuclear myopathy</b>: <b>from clinical diagnosis to genetic counseling</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200022&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Prenatal diagnosis</b>: <b>a case of partial trisomy 6Q</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200023&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Mutation analysis of genes involved in sperm motility</b>: <b>a study in patients with total sperm immotility</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200024&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Prenatal diagnosis mosaic 45, X case with a marker chromosome</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200025&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>X-linked icthyosis</b>: <b>a metabolic ethiology for “dry skin”</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200026&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Mosaicism with two X chromosome different rearrangements and a turner-like phenotype</b>: <b>case report</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200027&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Distal XQ27->Q28 duplication and functional disomy</b>: <b>clinical and cytogenetic characterization</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200028&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Clinical, biochemical and molecular studies: stepwise to achieve diagnosis of fabry disease</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200029&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Hunter syndrome, the most prevalent mucopolysaccharidosis in portugal</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200030&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>A adrenoleucodistrofia ligada ao cromossoma X em portugal</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000200031&lng=pt&nrm=iso&tlng=pt