المؤلفون: Ann‐Christin Jahnke‐Majorkovits, Christine Fauth, Manuela Gander, Kathrin Sevecke

المصدر: Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: Coffin‐Siris syndrome, interaction patterns, psychiatric comorbidities, therapeutic intervention, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/103a04b3db264901adc1b5e7ed5568d8

المؤلفون: Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, Christine Fauth, Michaela Defrancesco, Johannes Zschocke, Katharina Günther, Frank Edenhofer

المصدر: Stem Cell Research, Vol 61, Iss , Pp 102784- (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122001337; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/ca79e8b4a2c74e01b2a6ac4777598e3d

المؤلفون: Christina Schreiner, Elisabeth Ralser, Christine Fauth, Ursula Kiechl-Kohlendorfer, Elke Griesmaier

المصدر: Journal of Pediatric Surgery Case Reports, Vol 69, Iss , Pp 101861- (2021)

مصطلحات موضوعية: Case report, Haddad syndrome, Preterm infant, CCHS, Hirschsprung disease, Pediatrics, RJ1-570, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221357662100083X; https://doaj.org/toc/2213-5766

URL الوصول: https://doaj.org/article/1cd1d50ef97542ffb2188261220a36b4

المؤلفون: Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/3-46/v1; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec

المؤلفون: Andreas Bolzer, Gregor Kreth, Irina Solovei, Daniela Koehler, Kaan Saracoglu, Christine Fauth, Stefan Müller, Roland Eils, Christoph Cremer, Michael R Speicher, Thomas Cremer

المصدر: PLoS Biology, Vol 3, Iss 5, p e157 (2005)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/65a0712be0d3411c9e4e3ac04635aea9

المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura

المصدر: Human Mutation. 41:299-315

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7
https://doi.org/10.1002/humu.23929

المؤلفون: Wolfgang Nachbauer, Gregor K. Wenning, Birgit Krabichler, Wolfgang Dichtl, Sylvia Boesch, Andreas Eigentler, Michaela Wagner, Elisabetta Indelicato, Christine Fauth, Andreas R. Janecke, Alessandra Fanciulli, Anna Schossig

المصدر: Parkinsonism & Related Disorders. 62:210-214

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Ataxia, Cerebellar Ataxia, Genotype, Nerve Tissue Proteins, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Humans, Spinocerebellar Ataxias, Medicine, Missense mutation, Muscular dystrophy, Mutation, Arthrogryposis multiplex congenita, Cerebellar ataxia, business.industry, Heterozygote advantage, medicine.disease, Phenotype, Cytoskeletal Proteins, Optic Atrophy, 030104 developmental biology, Neurology, Muscle Spasticity, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2aadf4dd2b2a5c3af009a282352bcf
https://doi.org/10.1016/j.parkreldis.2018.12.007

المؤلفون: Wolfgang Löscher, Peter Bauer, Herbert Schreiber, Daniela Karall, Matthias Baumann, Jan Senderek, Birgit Krabichler, Beate Schlotter-Weigel, Dieter Glaeser, Rolf Stucka, Christine Fauth, Tim M. Strom

المصدر: Clinical Genetics. 95:182-186

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, 030105 genetics & heredity, Mitochondrial Proteins, Polyneuropathies, Young Adult, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Juvenile, Genetic Predisposition to Disease, Age of Onset, Child, Inner mitochondrial membrane, MPV17, Genetics (clinical), business.industry, Liver Diseases, Membrane Proteins, Peripheral Nervous System Diseases, medicine.disease, Axons, Failure to Thrive, Peripheral, 030104 developmental biology, Axonal sensorimotor polyneuropathy, Endocrinology, Failure to thrive, Mitochondrial DNA depletion syndrome, Heredodegenerative Disorders, Nervous System, Female, Sensorimotor Cortex, medicine.symptom, business, Liver Failure, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca1f4ed548a408f1e6d182db73bc5b0f
https://doi.org/10.1111/cge.13462

المؤلفون: Christine Fauth, Denny Schanze, Alper Gezdirici, Francis Ramond, Francesca Pantaleoni, Christina Lissewski, Violeta Iotova, Alain Verloes, Marco Tartaglia, Valentina Pinna, Gülen Eda Utine, Pelin Ozlem Simsek-Kiper, Elif Yilmaz Gulec, Birute Burnyte, Yoann Vial, Milena Stoyanova, Julia Brinkmann, Francesca Romana Lepri, Alessandro De Luca, Martin Zenker, Marketa Havlovicova, Paola Daniele, Goran Cuturilo, Hélène Cavé, Dieter Kotzot

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Genetics, Clinical significance, Genetic heterogeneity, Noonan Syndrome, Biology, RASopathy, medicine.disease, biology.organism_classification, Brief Communication, A2ML1, Phenotype, Mutation, medicine, Noonan syndrome, Missense mutation, Humans, alpha-Macroglobulins, Genetic Testing, 610.72, RASopathies, Gene, Zebrafish, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97624815ca314a8d25a1891bb3678779
https://pubmed.ncbi.nlm.nih.gov/33082526

المؤلفون: Triantafyllia Brozou, Olivier Lascols, Michaela Kuhlen, Chrystelle Colas, Julia Taeubner, Christine Fauth, Jessica I. Hoell, Katharina Wimmer, Joerg Felsberg, Jasmin C. Riemer, Sebastian Ginzel, Arndt Borkhardt, Martine Muleris, Michael Gombert

المساهمون: Department of Medical Genetics, Medical University of Vienna, Vienna, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Division of Clinical Genetics, Department of Medical Genetics, Molecular and and Clinical Pharmacology, Innsbruck Medical University [Austria] (IMU), Clinic of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Heinrich-Heine-University

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.440-444. ⟨10.1038/s41431-017-0071-5⟩

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], education, Brief Communication, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Cell Line, Tumor, Genetics, Humans, Medicine, Genetic Testing, Cerebellar Neoplasms, Cells, Cultured, Genetics (clinical), business.industry, Desmoplastic medulloblastoma, Homozygote, Infant, Microsatellite instability, medicine.disease, Phenotype, 3. Good health, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, 030104 developmental biology, MSH2, 030220 oncology & carcinogenesis, Immunohistochemistry, Female, DNA mismatch repair, business, Medulloblastoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9608fd9bf63c1ef0c72227b6627a182
https://doi.org/10.1038/s41431-017-0071-5