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    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Diagnosis and management of ectodermal dysplasia in neonates and infants
    • Medizinische Universität Innsbruck
    • Stoffwechsellabor der Universitätsklinik für Kinder- und Jugendheilkunde
    • More details
    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Unraveling pathophysiologic and genetic causes of primary immune deficiencies
    • Ghent University Hospital - UZGent
    • Clinical Immunology Research Lab
    • 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 Ghent
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Inherited bone marrow failure syndromes: from genomic discoveries to biology
    • Hospital for Sick Children, Research Institute
    • More details
    • CANADA
    • Québec
    • SHERBROOKE
    • AcademicsIndustrialsFinancial investitors
    • Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
    • CHU Sherbrooke - Hôpital Fleurimont
    • Service de génétique médicale
    • 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
    • CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
    • Laboratoire de cytogénétique et biologie de la reproduction
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Identification of the molecular basis for unexplained mental retardation
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Chromosomic errors and syndromic mental retardations
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Laboratoire de Génétique Moléculaire
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Ectodermal dysplasia and incontinentia pigmenti: clinic and genetic stripping; physiopathologic mechanisms study
    • CHU Paris - Hôpital Necker-Enfants Malades
    • Service de dermatologie
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
    • CHU Paris-GH St-Louis Lariboisière F-Widal - Hôpital Saint-Louis
    • Service d'hématologie pédiatrique
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • RNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies
    • Faculté de médecine Paris-Descartes, Site Necker
    • Laboratoire de Cristallographie & RMN biologiques
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Immune-Rep: Consequences of DNA repair and telomere defects on the function of the Immune System: application to CVID and immune deficiencies with dysmorphic syndromes
    • IMAGINE - Institut des Maladies Génétiques
    • Dynamique du génome et du système immunitaire
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
    • Universitätsklinikum Freiburg
    • Klinik für Pädiatrische Hämatologie und Onkologie
    • More details
    • GERMANY
    • Baden-Württemberg
    • FREIBURG
    • A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
    • Universitätsklinikum Freiburg
    • Centrum für Chronische Immundefizienz
    • More details
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • NGFN plus : IG German Mental Retardation Network - MR Centre Heidelberg (Project 9): Mutation screenings and functional characterisation on candidate genes
    • Universitätsklinikum Heidelberg
    • Abteilung Molekulare Humangenetik
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • NGFN plus : IG German Mental Retardation Network - MR Zentrum Tübingen (project 3): High resolution SNP microarrays for identification of genome imbalances and segmental UPD's. Molecular (MLPA, qPCR) and molecular cytogenetic (FISH) techniques for validation of Copy Number Variants.
    • Universitätsklinikum Tübingen
    • Medizinische Genetik Tübingen
    • More details
    • GERMANY
    • Bayern
    • ERLANGEN
    • NGFN plus : IG German Mental Retardation Network (coordination)
    • Universitätsklinikum Erlangen
    • Humangenetisches Institut
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Generation and characterisation of expanding hematopoietic stem cell cultures to investigate genetic and development specific aspects of Congenital Bone Marrow Failure Syndromes
    • LMU Klinikum der Universität München - Campus Innenstadt
    • Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • PID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
    • LMU Klinikum der Universität München - Campus Innenstadt
    • Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • NGFN plus : IG German Mental Retardation Network - MR Centre Munich (project4): Genome-wide hybridization of genomic DNA with oligonucleotide-based arrays
    • Technische Universität München
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
    • Max-Planck-Institut für molekulare Genetik
    • Abteilung Human Molecular Genetics
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • NGFN plus : IG German Mental Retardation Network -MR Centre Berlin (Teilprojekt 2): Array CGH for detection of submicroscopic genome imbalances, homozygosity mapping using SNP arrays
    • Max-Planck-Institut für molekulare Genetik
    • Abteilung Human Molecular Genetics
    • More details
    • GERMANY
    • Niedersachsen
    • HANNOVER
    • PID- Net: Gene transfer technologies for correction of inherited immunodeficiency
    • Medizinische Hochschule Hannover
    • Abteilung Experimentelle Hämatologie
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • NGFN plus : IG German Mental Retardation Network - MR Centre Bonn (Project 5): identification of candidate genes for mental retardation by the detection and analysis of submicroscopic CNCs
    • Universitätsklinikum Bonn
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • ESSEN
    • NGFN plus : IG German Mental Retardation Network - MR Centre Essen (Project 8): genotype phenotype correlations in patients with mental retardation
    • Universitätsklinikum Essen
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • KREFELD
    • PID-Net: Development of novel high-throughput sequencing technology (Mutation analysis resulting in primary immunodeficiency syndromes)
    • HELIOS Klinikum Krefeld
    • Zentrum für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • NGFN plus : IG German Mental Retardation Network - MR Centre Münster (Project 6): Identification of diseases causing genes in mental retardation
    • Universitätsklinikum Münster
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Saarland
    • HOMBURG
    • CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments (coordination)
    • Universitätsklinikum des Saarlandes
    • Forschungsstelle für Molekulares Imaging und Screening
    • More details
    • GERMANY
    • Sachsen
    • DRESDEN
    • NGFN plus : IG German Mental Retardation Network - MR Centre Dresden (Project 7): Clinical characterization, molecular karyotyping and gentype phenotype correlations
    • Universitätsklinikum Carl Gustav Carus an der TU Dresden
    • Institut für Klinische Genetik
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Drosophila melanogaster minifly mutants: a model system for the study of the molecular basis of the X-linked dyskeratosis congenita
    • Università degli Studi Federico II
    • Laboratorio di Genetica Molecolare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • GENESKIN: European network on rare genetic skin diseases (coordination)
    • Istituto Dermopatico dell'Immacolata - IRCCS
    • Laboratorio di Biologia Molecolare e Cellulare
    • More details
    • ITALY
    • LOMBARDIA
    • CUSANO MILANINO
    • Molecular analysis of families cosegregating X-linked mental retardation
    • Istituto Auxologico Italiano
    • Laboratorio di Biologia Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Identification of the function of genes muteted in X-linked mental retardation
    • Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
    • Laboratorio di Farmacologia Molecolare
    • More details
    • ITALY
    • PIEMONTE
    • TORINO
    • Genetics basis of Mental Retardation
    • A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
    • Struttura Semplice di Genetica
    • 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
    • POLAND
    • Warszawa
    • WARSAW
    • Research on intellectual deficit ethiopathogenesis. Mapping and identification of genes localized on chromosome X using CGH microarrays.
    • Institute of mother and child / Instytut Matki i Dziecka
    • Department of medical genetics - Zespol Pracowni Genetyki Molekularnej
    • More details
    • POLAND
    • Wroclaw
    • WROCLAW
    • TCR Vbeta repertoire and PNH clones in children with refractory cytopenia: an open nonrandomised multi-center prospective study
    • Wroclaw Medical University
    • Department and Clinic of Pediatric Oncology, Hematology and Bone Marrow Transplantation
    • More details
    • PORTUGAL
    • NORTE
    • PORTO
    • Integrated Micro-Nano-OPTO Fluidic systems for high-content diagnosis and studies of rare cancer cells
    • Instituto de Patologia e Imunologia Molecular da Universidade do Porto
    • Genética de Tumores
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Development of a therapy for treatment of X-linked dyskeratosis congenita, Werner syndrome and aplastic anemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
    • Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
    • Laboratorio de Modelos de Enfermedades Humanas (Grupo de Dra. Perona Abellón)
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • HUDDINGE
    • Genetic basis of immunodeficiency diseases
    • Karolinska Institutet - Huddinge
    • Department of laboratory medicine
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
    • Addenbrooke's Hospital
    • Department of Medicine
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • NIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
    • Addenbrooke's Hospital
    • Academic Department of Medical Genetics
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
    • Barts and The London School of Medicine and Dentistry
    • Centre for Paediatrics
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details