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 TitleAuthors / EditorsDate
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Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome Fiksinski, Ania M; Schneider, Maude; Murphy, CM; Armando, Marco; ... Vorstman, Jacob A S 2018
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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
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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
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Ranza, Emmanuelle Nathalie; Korff, Christian 2017
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy EuroEPINOMICS-RES MAE working group 2016
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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
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy Otto, Edgar A; Ramaswami, Gokul; Janssen, Sabine; Chaki, Moumita; ... Hildebrandt, Friedhelm 2011
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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique 2011
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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 2011
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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
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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
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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
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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
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Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Antonarakis, Stylianos; ... Giacobino, Ariane 2009
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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
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Gene therapy and protein therapy of ectodermal dysplasias: a perspective Gaide, Olivier 2009
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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
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