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1Academic Journal
المؤلفون: Johanna Eichinger, Bernice S. Elger, Insa Koné, Isabel Filges, David Shaw, Bettina Zimmermann, Stuart McLennan
المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-45 (2021)
مصطلحات موضوعية: Whole genome sequencing, Whole exome sequencing, Genome-wide sequencing, Pediatrics, Children, Ethical, legal and social issues, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2431
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2Academic Journal
المؤلفون: Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100709- (2021)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
مصطلحات موضوعية: agnathia‐otocephaly, exome sequencing, prenatal, SMAD3, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4Academic Journal
المؤلفون: Christian Vogler, Leo Gschwind, Benno Röthlisberger, Andreas Huber, Isabel Filges, Peter Miny, Bianca Auschra, Attila Stetak, Philippe Demougin, Vanja Vukojevic, Iris-Tatjana Kolassa, Thomas Elbert, Dominique J-F de Quervain, Andreas Papassotiropoulos
المصدر: PLoS ONE, Vol 5, Iss 12, p e15246 (2010)
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
المصدر: Journal of Personalized Medicine, Vol 14, Iss 6, p 648 (2024)
مصطلحات موضوعية: SwissGenVar, Switzerland, NGS, expert-curated variant interpretation, national mutation database, genotype–phenotype database, Medicine
Relation: https://www.mdpi.com/2075-4426/14/6/648; https://doaj.org/toc/2075-4426; https://doaj.org/article/3722586b49164fedad407d6675067559
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6Academic Journal
المؤلفون: Johanna Eichinger (11056077), Bernice S. Elger (11397860), Insa Koné (3558626), Isabel Filges (235073), David Shaw (365988), Bettina Zimmermann (2162590), Stuart McLennan (546916)
مصطلحات موضوعية: Genetics, Whole genome sequencing, Whole exome sequencing, Genome-wide sequencing, Pediatrics, Children, Ethical, legal and social issues
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7
المؤلفون: Isabel Filges, Stephanie Jünemann, Elke Viehweger, Sevgi Tercanli
المصدر: Prenatal Diagnosis.
مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)
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8
المؤلفون: Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
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9
المؤلفون: Isabel Filges
المصدر: Transition bei neurologischen Erkrankungen ISBN: 9783662657232
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10
المؤلفون: Isabel Filges, Sven Cichon, Thierry Nouspikel, Naomi Porret, Anita Rauch, Sheila Unger
المصدر: Bulletin des Médecins Suisses.
مصطلحات موضوعية: Microbiology (medical), Immunology, Immunology and Allergy
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11
المؤلفون: Isabel Filges, Sven Cichon, Thierry Nouspikel, Naomi Porret, Anita Rauch, Sheila Unger
المصدر: Schweizerische Ärztezeitung.
مصطلحات موضوعية: General Medicine
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12
المؤلفون: Bettina M. Zimmermann, Johanna Eichinger, Isabel Filges, Bernice Simone Elger, Insa Koné, David Shaw, Stuart McLennan
المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-45 (2021)
BMC Pediatricsمصطلحات موضوعية: RETURN, DISCLOSURE, education, Genome-wide sequencing, Pediatrics, RJ1-570, legal and social issues, Informed consent, ADOLESCENTS, Humans, Medicine, Genetic Testing, Child, Children, Exome sequencing, Genetic testing, GENETIC EXCEPTIONALISM, INFORMED-CONSENT, Scope (project management), medicine.diagnostic_test, STATEMENT, business.industry, Genetic exceptionalism, Research, Whole exome sequencing, Ethical, Ethical, legal and social issues, CARE, ddc, Systematic review, Incentive, Whole genome sequencing, Pediatrics, Perinatology and Child Health, WHOLE-GENOME, INCIDENTAL FINDINGS, Normative, Engineering ethics, business, Delivery of Health Care
وصف الملف: application/pdf
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13
المؤلفون: Isabel Filges, Sevgi Tercanli, Wolfgang Holzgreve, Peter Miny
المصدر: Journal of Perinatal Medicine. 49:1003-1010
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Noninvasive Prenatal Testing, Genomics, Prenatal diagnosis, 030105 genetics & heredity, Ultrasonography, Prenatal, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Gene panel, Humans, Medicine, Medical physics, Copy-number variation, Exome sequencing, 030219 obstetrics & reproductive medicine, business.industry, Genetic Carrier Screening, Obstetrics and Gynecology, Image capture, Pediatrics, Perinatology and Child Health, Female, Personalized medicine, business, Carrier screening, Switzerland
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14
المؤلفون: Erica H. Gerkes, Ingo Kurth, Beyhan Tüysüz, Isabel Filges, Martin A. Mensah, Stefan Mundlos, Susanne Markus, Luitgard Graul-Neumann, Wiebke Hülsemann, Daniel Svoboda, Manuel Holtgrewe, Nursel Elcioglu, Marie Coutelier, Almuth Caliebe, Aleksander Jamsheer, Jonas Elsner, Christopher Teller, Stefania Bigoni, Rixa Woitschach, Malte Spielmann, Inga Vater, Jakob Hertzberg, Miriam S. Reuter, Peter Krawitz, Katta M. Girisha, Deepthi De Silva, Denise Horn, André Mégarbané, André Reis, Andreas Busche, Meredith Wilson, Seval Türkmen
المساهمون: Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elcioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, Andre, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Turkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hulsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte
المصدر: Human Genetics
HUMAN GENETICS, 140(8), 1229-1239. SPRINGERمصطلحات موضوعية: Male, DISRUPTION, Candidate gene, Ectrodactyly, Duplication, FEATURES, Gene Expression, Expression, Ubiquitin-Activating Enzymes, Gene, Cohort Studies, Features, Genetics (clinical), Original Investigation, Genetics, Patient, Remote, Pedigree, REMOTE, Mutations, EXPRESSION, DNA Copy Number Variations, Limb Deformities, Congenital, Biology, PATIENT, DNA sequencing, ENHANCER, Genetic Heterogeneity, Genetic variation, medicine, Humans, Genetic Testing, ddc:610, Homeodomain Proteins, Base Sequence, Whole Genome Sequencing, MUTATIONS, Genetic heterogeneity, Infant, medicine.disease, GENE, DUPLICATION, Human genetics, HOXD13, Mutation, Disruption, Trinucleotide repeat expansion, Enhancer, Transcription Factors
وصف الملف: application/pdf
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15
المؤلفون: Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C. Carmody, Sophie Collardeau‐Frachon, Esther A. Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G. Iliescu, Markus S. Ladewig, Monica C. Munoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A. Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa A Haendel, Peter N. Robinson
المساهمون: Institut Català de la Salut, [Dhombres F] Sorbonne University, GRC26, INSERM, Limics, Armand Trousseau Hospital, Fetal Medicine Department, APHP, Paris, France. [Morgan P] American College of Medical Genetics and Genomics, Newborn Screening Translational Research Network, Bethesda, USA. [Chaudhari BP] Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, USA. [Filges I] University Hospital Basel and University of Basel, Medical Genetics, Basel, Switzerland. [Sparks TN] Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA. [Lapunzina P] CIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics, Madrid, Spain. [Rodo C] Grup de Recerca en Medicina Materna i Fetal, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Sorbonne Paris Nord, American College of Medical Genetics and Genomics [Bethesda, MD, USA] (ACM2G), Nationwide Children's Hospital, University Hospital Basel [Basel], University of Basel (Unibas), University of California [San Francisco] (UC San Francisco), University of California (UC), CIBER de Enfermedades Raras (CIBERER), Hospital Universitario La Paz, University of New South Wales [Canberra Campus] (UNSW), Liverpool Women's NHS Foundation Trust, Nizam's Institute of Medical Sciences (NIMS), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Mary University of London (QMUL), The Jackson Laboratory [Bar Harbor] (JAX), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Société Française de Foetopathologie [Paris] (SOFFOET), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), St George's, University of London, University of Tübingen, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Columbia University Irving Medical Center (CUIMC), University Hospital of North Norway [Tromsø] (UNN), Children's Clinical University Hospital [Riga, Latvia] (CCUH), University of Medicine and Pharmacy of Craiova, Saarland University Hospital (UKS), University of Colorado Anschutz [Aurora], AUSL di Reggio Emilia Istituto di Ricerca a Carattere Clinico Scientifico [Reggio Emilia, Italie], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Vall d'Hebron University Hospital [Barcelona], Hospital de Santa Maria [Lisboa], Centro Hospitalar Universitário Lisboa Norte [Lisbon, Portugal] (CHULN), Baylor College of Medicine (BCM), Baylor University, CarMeN, laboratoire
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics, vol 190, iss 2
Scientia
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022, 190 (2), pp.231-242. ⟨10.1002/ajmg.c.31989⟩مصطلحات موضوعية: prenatal phenotyping, [SDV]Life Sciences [q-bio], Placenta, Clinical Sciences, Diagnòstic prenatal, fetal pathology, Reproductive health and childbirth, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras [ENFERMEDADES], Rare Diseases, Pregnancy, Clinical Research, Exome Sequencing, Genetics, Humans, Genetics (clinical), Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Obstetrical and Gynecological::Prenatal Diagnosis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Pediatric, Genetics & Heredity, diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas obstétricas y ginecológicas::diagnóstico prenatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], screening and diagnosis, prenatal diagnosis, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [DISEASES], Prevention, Human Genome, Infant, Newborn, Computational Biology, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Newborn, 4.1 Discovery and preclinical testing of markers and technologies, [SDV] Life Sciences [q-bio], Fenotip, Detection, Phenotype, Good Health and Well Being, Neurological, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], GA4GH Phenopacket, Congenital Structural Anomalies, Female, Hpo, HPO, Malalties rares, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], human phenotype ontology
وصف الملف: application/pdf
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16
المؤلفون: Silvia Kalantari, Isabel Filges
المصدر: Mol Syndromol
مصطلحات موضوعية: Gene ontology, Genetics, medicine, Original Article, Biology, medicine.disease, Bioinformatics, Renal agenesis, Genetics (clinical)
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17
المؤلفون: Silvia Kalantari, Isabel Filges
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Kinesins, Context (language use), Biology, Kidney, Ciliopathies, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Ciliogenesis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Cilia, Urinary Tract, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Developmental Defects, Cilium, Brain, medicine.disease, Phenotype, Multigene Family, Medical genetics, Kinesin, clinical genetics, 030217 neurology & neurosurgery
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18
المؤلفون: Sevgi Tercanli, Isabel Filges
المصدر: Ultraschall in der Medizin - European Journal of Ultrasound. 44:8-8
مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging
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19
المؤلفون: Petter Strømme, Isabel Filges
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Microcephaly, Chromosomal Proteins, Non-Histone, Intestinal Atresia, Disease, Bioinformatics, Sensitivity and Specificity, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Eye Abnormalities, Genetic Testing, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, business.industry, Microfilament Proteins, 030305 genetics & heredity, CENPF, Chromosome, medicine.disease, Phenotype, eye diseases, 3. Good health, Ciliopathy, Mutation, Clinical Utility Gene Card, biology.protein, business
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20
المؤلفون: Sevgi Tercanli, Isabel Filges, Judith G. Hall
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:327-336
مصطلحات موضوعية: medicine.medical_specialty, Population, Fetus, Pregnancy, Genetics, Animals, Humans, Medicine, education, Genetics (clinical), Muscle contracture, Arthrogryposis, education.field_of_study, Arthrogryposis multiplex congenita, business.industry, Obstetrics, Prenatal Care, Prognosis, medicine.disease, Fetal movement, Etiology, Female, medicine.symptom, business
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