Advanced search

Show items per page
Elements: 36
Page 1 on 2
 TitleAuthors / EditorsDate
add to browser selection
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome Fiksinski, Ania M; Schneider, Maude; Murphy, CM; Armando, Marco; ... Vorstman, Jacob A S 2018
add to browser selection
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
add to browser selection
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology Ripperger, Tim; Von Bueren, André 2017
add to browser selection
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
add to browser selection
Rare genotype combination of the serotonin transporter gene associated with treatment response in severe personality disorder Perroud, Nader Ali; Salzmann, Annick; Saiz, Pilar A.; Baca-Garcia, Enrique; ... Malafosse, Alain 2010
add to browser selection
European collaborative study of early-onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset Mathieu, Flavie; Dizier, Marie-Helene; Etain, Bruno; Jamain, Stephane; ... Bellivier, Frank 2010
add to browser selection
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation Gimelli, Stefania; Divizia, Maria Teresa; Lerone, Margherita; Bricco, Lara; ... Gimelli, Giorgio 2010
add to browser selection
Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims Perroud, Nader Ali; Neidhart, Elizabeth; Petit, Brice; Vessaz, Monique; ... Guipponi, Michel 2010
add to browser selection
Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II) Wright, J Timothy; Morris, Clark; Clements, Suzanne E.; D'Souza, Rena; ... Zonana, Jonathan 2009
add to browser selection
Gene therapy and protein therapy of ectodermal dysplasias: a perspective Gaide, Olivier 2009
add to browser selection
Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia Mauldin, Elizabeth A.; Gaide, Olivier; Schneider, Pascal; Casal, Margret L. 2009
add to browser selection
Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior Guipponi, Michel; Deutsch, Samuel; Kohler, Karine; Perroud, Nader; ... Malafosse, Alain 2009
add to browser selection
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
add to browser selection
Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis Rougemont-Pidoux, Anne-Laure; Bouron-Dal Soglio, Dorothee; Desilets, Valerie; Jovanovic, Mubina; ... Fournet, Jean-Christophe 2008
add to browser selection
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
add to browser selection
Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
add to browser selection
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation Bottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard 2007
add to browser selection
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Oliver Laurent; ... Conrad, Bernard 2007
add to browser selection
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation Everman, D. B.; Morgan, C. T.; Lyle, Robert; Laughridge, M. E.; ... Schwartz, C. E. 2006
add to browser selection
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region Lyle, Robert; Radhakrishna, Uppala; Blouin, Jean-Louis; Gagos, Sarantis; ... Antonarakis, Stylianos 2006
<< previous | 1 | 2 |