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33 Result(s)

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    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Diagnosis and management of ectodermal dysplasia in neonates and infants
    • Medizinische Universität Innsbruck
    • Department für Kinder- und Jugendheilkunde
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Molecular genetic investigation of apparently balanced translocations in patients with mental retardation and multiple congenital malformations.
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics
    • More details
    • ESTONIA
    • Tartu
    • TARTU
    • Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation (EFT 5467).
    • University of Tartu
    • The Institute of Molecular and Cell Biology
    • More details
    • FRANCE
    • ILE DE FRANCE
    • BONDY
    • Cryptic anomalies by CGH array in children with mental retardation and ophtalmologic anomalies
    • Hôpital Jean Verdier
    • Laboratoire de cytogénétique et biologie de la reproduction
    • More details
    • FRANCE
    • ILE DE FRANCE
    • PARIS
    • Ectodermal dysplasia and incontinentia pigmenti: clinic and genetic stripping; physiopathologic mechanisms study
    • Hopital Necker - Enfants Malades
    • Service de dermatologie
    • More details
    • FRANCE
    • ILE DE FRANCE
    • PARIS
    • NF-kB pathway and epidermic homeostasis: genetic and biochimic characterization of clinical spectrum from incontinentia pigmenti to ectodermal dysplasia
    • Hopital Necker - Enfants Malades
    • Service de dermatologie
    • More details
    • FRANCE
    • ILE DE FRANCE
    • PARIS
    • Cartography and genetic identification of type 2 incontinentia pigmenti
    • Hopital Necker - Enfants Malades
    • Département de génétique moléculaire
    • More details
    • FRANCE
    • ILE DE FRANCE
    • PARIS
    • Identification of the molecular basis for unexplained mental retardation
    • Hopital Necker - Enfants Malades
    • Département de génétique moléculaire
    • More details
    • FRANCE
    • ILE DE FRANCE
    • PARIS
    • Chromosomic errors and syndromic mental retardations
    • Hopital Necker - Enfants Malades
    • Département de génétique moléculaire
    • More details
    • FRANCE
    • ILE DE FRANCE
    • PARIS
    • NF-kB and epidermis - NF-kB signalling, from incontinentia pigmenti to anhidrotic ectodermal dysplasia
    • Hopital Necker - Enfants Malades
    • Département de génétique moléculaire
    • More details
    • FRANCE
    • LORRAINE
    • VANDOEUVRE-LES-NANCY
    • Genetics of Mental retardation: molecular characterization of chromosomal rearrangements (X and autosomes)
    • CHU de Nancy - Hôpital Brabois adultes
    • Laboratoire de génétique médicale
    • More details
    • FRANCE
    • RHONE-ALPES
    • SAINT-ETIENNE
    • Mutations search of NEMO gene in Incontinentia pigmenti
    • CHU Saint-Etienne - Hôpital Nord
    • Service de génétique clinique chromosomique et moléculaire
    • More details
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Genetics, pathophysiology and therapeutic perspectives of hereditary epilepsies
    • Universität Ulm
    • Institut für Angewandte Physiologie
    • More details
    • GERMANY
    • Baden-Württemberg
    • ULM
    • EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
    • Universität Ulm
    • Institut für Angewandte Physiologie
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • The genetic IP defects: molecular analysis of NEMO gene and other NF-kB related genes
    • Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
    • Istituto di Genetica e Biofisica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Study with high definition CGH Array on carriers patients of chromosomal rearrangements apparently balanced:phenotype-genotype correlation
    • Istituto CSS-Mendel
    • Laboratorio di Biologia Molecolare e Citogenetica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Functional study of epileptogenic na+ channel mutations in transfected neurons and animal models
    • Fondazione IRCCS Istituto Nazionale Neurologico "C. Besta"
    • Dipartimento di Neurofisiopatologia ed Epilettologia Diagnostica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Functional study of regulation dendritic spine by ampa receptors
    • Università degli Studi di Milano
    • Laboratorio di Farmacologia Molecolare
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genetics basis of Mental Retardation
    • Azienda Sanitaria Ospedaliera O.I.R.M. - S. Anna - Università di Torino
    • Struttura Semplice di Genetica
    • More details
    • ITALY
    • PUGLIA
    • SAN GIOVANNI ROTONDO
    • Molecular genetics of cerebral cavernous malformations
    • IRCCS Ospedale Casa Sollievo della Sofferenza
    • Servizio di Genetica Medica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • U.O.C.di Pediatria e Genetica Medica
    • More details
    • ITALY
    • SICILIA
    • TROINA
    • Usefulness of 244K array-CGH in the ascertainment of Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
    • IRCCS OASI Maria Santissima
    • Laboratorio di Diagnosi Genetica
    • More details
    • SPAIN
    • Andalucía
    • ARMILLA
    • Primary immunodeficiencies treatment with genetic therapy using lentiviral vectors regulated and pharmacological inhibitors
    • Centro de Investigación Biomédica
    • Instituto de Biopatología y Medicina Regenerativa
    • More details
    • SPAIN
    • Castilla - León
    • VALLADOLID
    • Characterization of mental retardation of genetic origin
    • Universidad de Valladolid. Facultad de Medicina.
    • Laboratorio de Pediatría
    • More details
    • SPAIN
    • Cataluña
    • BARCELONA
    • Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation
    • Hospital Clínic i Provincial de Barcelona
    • Laboratorio del Servicio de Bioquímica y Genética Molecular
    • More details
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Application of CGH-array to detect genomic rearrangements responsible for idiophatic mental retardation
    • Hospital Universitario La Fe
    • Unidad de Genética y Diagnóstico Prenatal
    • More details
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Industrials
    • High definition genomic screening of candidate genes for neurodevelopmental disorders
    • Hospital Universitario La Fe
    • Unidad de Genética y Diagnóstico Prenatal
    • More details
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • Molecular foundations of the human ectodermic dysplasia syndrome
    • Instituto de Biomedicina de Valencia, CSIC
    • Unidad de Modelos Animales de Patologías Cutáneas
    • More details
    • SPAIN
    • Extremadura
    • BADAJOZ
    • Study of patients with unexplained mental retardation, with positive family history and dismorphic features. Study with subtelomeric probes.
    • Hospital Materno Infantil de Badajoz
    • Unidad de Genética
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Detection of subtelomeric chromosomal anomalies in patients with idiopathic mental retardation by fluorescence in situ hybridization (FISH)
    • Hospital Universitario La Paz
    • Instituto de Genética Médica y Molecular
    • More details
    • SWITZERLAND
    • Suisse Romande
    • GENEVE
    • Function of the mental retardation genes PAK3 and ARGHEF6
    • Centre Médical Universitaire
    • Department of Neuroscience
    • More details
    • SWITZERLAND
    • Suisse Romande
    • GENEVE
    • Unbalanced chromosomal anomalies detection in patients with mental retardation and/or dysmorphism by CGH-Array (oligonucleotides chip - Agilent 244K): Geneva - Lausanne collaborative study
    • Centre Médical Universitaire
    • Laboratoire de Cytogénétique Clinique
    • More details
    • SWITZERLAND
    • Suisse Romande
    • LAUSANNE
    • Unbalanced chromosomal anomalies detection in patients with mental retardation and/or dysmorphism by CGH-Array (oligonucleotides chip - NimbleGen): Geneva - Lausanne collaborative study
    • Maternité, Centre Hospitalier Universitaire Vaudois (CHUV)
    • Laboratoire de Cytogénétique Constitutionnelle et Prénatale
    • More details
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