Scielo RSS <![CDATA[Nascer e Crescer]]> http://scielo.pt/rss.php?pid=0872-075420150001&lang=pt vol. 24 num. lang. pt <![CDATA[SciELO Logo]]> http://scielo.pt/img/en/fbpelogp.gif http://scielo.pt <![CDATA[<b>Mechanisms of primary ovarian insufficiency</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100001&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Azoospermia e oligozoospermia</b>: <b>características clínicas e causas genéticas</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100002&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Toxic RNA and myotonic dystrophy</b>: <b>from the dissection of disease mechanisms to the development of novel therapeutic strategies</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100003&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Contributo da neuropatologia para o diagnóstico das doenças neuromusculares</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100004&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Doenças neuromusculares no adulto</b>: <b>abordagem clínica</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100005&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>New therapeutic approaches in adult neuromuscular disorders</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100006&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>140 years since the identification of Gaucher disease</b>: <b>what is there left to learn?</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100007&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Carrier screening</b>: <b>will it be possible to eliminate autosomal recessive disorders?</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100008&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Diagnosis of neurometabolic disorders through next generation sequencing panels and bioinformatics tools</b>: <b>two years of experience</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100009&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Schwannnomatose múltipla não relacionada com NF2</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100010&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Síndrome de deleção 22q11.2</b>: <b>diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100011&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Recessive TTN truncating mutation define a novel antenatal severe form of “CAP-myopathy” in absence of heart disease</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100012&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100013&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Long-term follow-up of individuals with Williams-Beuren syndrome</b>: <b>facilitate transition from pediatric medicine to adult medicine (a case report)</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100014&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Aplicação dos marcadores IRT/PAP/IRT no rastreio neonatal da fibrose quística</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100015&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Translocação 11;22 num caso de infertilidade</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100016&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Infertility</b>: <b>importance of cytogenetic study</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100017&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Male infertility and chromosome aberrations</b>: <b>two case reports</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100018&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Autosome-autosome reciprocal translocation</b>: <b>implications in the fertility</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100019&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100020&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>High phenotypic variability in two siblings with spinal muscular atrophy</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100021&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Pregnancy in a patient with distal arthrogryposis type 2B</b>: <b>clinical diagnosis, prenatal diagnosis and genetic counseling</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100022&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Whole-exome sequencing analysis of adult patients with rare genetic diseases</b>: <b>what have we learned?</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100023&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Phenotypic spectrum of <i>DCX</i> pathogenic mutations in females</b>: <b>from childhood to adulthood clinical onset</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100024&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>A portuguese family with CADASIL diagnosis with anticipation age of onset observed</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100025&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Lujan-Fryns and Opitz-Kaveggia syndromes</b>: <b><i>MED12</i></b><b> molecular screening</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100026&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Distúrbios hereditários raros revelados pelo esfregaço de sangue periférico</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100027&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Frontotemporal dementia and neuronal ceroid lipofuscinosis</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100028&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Forma adulta da doença de Pompe em Portugal</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100029&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Intronic long interspersed nuclear element (LINE-1) insertion in the DMD gene as a cause of Becker muscular dystrophy</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100030&lng=pt&nrm=iso&tlng=pt <![CDATA[<b>Doenças hereditárias do metabolismo</b>: <b>afinal não são assim tão raras no adulto...</b>]]> http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000100031&lng=pt&nrm=iso&tlng=pt