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: 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: 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: 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

المؤلفون: Nicolas Sadoni, Sabine Langer, Christine Fauth, Giorgio Bernardi, Thomas Cremer, Bryan M. Turner, Daniele Zink

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/bc/08/J_Cell_Biol_1999_Sep_20_146(6)_1211-1226.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.273.8726

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.273.8726

المؤلفون: Rainer Nustede, Katharina Wimmer, Ulrich Lehmann, Johannes Zschocke, Andreas Beilken, Tim Ripperger, Laura Valle, Diana Steinmann, Christian P. Kratz, Tanja Reineke-Plaass, Christine Fauth, Benno M. Ure, Britta Lamottke

المصدر: Familial Cancer

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Pathology, medicine.medical_specialty, Polymerase proofreading-associated polyposis, Skin Neoplasms, Adolescent, DNA repair, Biology, medicine.disease_cause, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Café-au-lait macule, Neoplastic Syndromes, Hereditary, Genetics, medicine, Humans, Genetics(clinical), Age of Onset, Poly-ADP-Ribose Binding Proteins, Germ-Line Mutation, Genetics (clinical), Mutation, POLD1, Brain Neoplasms, Cafe-au-Lait Spots, Cancer, Microsatellite instability, Pilomatricoma, DNA Polymerase II, Pilomatrixoma, medicine.disease, Colon cancer, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Original Article, Microsatellite Instability, Colorectal Neoplasms, Hair Diseases, Constitutional mismatch repair deficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11d789d867e8fd0398768653a2833827
https://doi.org/10.1007/s10689-016-9925-1

المؤلفون: Eamonn Sheridan, Alfredo Orrico, Ivan Ivanovski, Saskia Biskup, Alexej Knaus, Marzena Wiśniewska, Anna Keryan, Bernd Wollnik, Gundula Thiel, Gorazd Rudolf, Max Zhao, Malte Spielmann, Yaron Gurovich, Sandra Wilson, Uwe Kornak, Pola Smirin-Yosef, Yair Hanani, Christina Fagerberg, Christian Thiel, Peter N. Robinson, Diana Mitter, Annick Raas-Rothschild, Gholson J. Lyon, Na Zhu, Dagmar Wahl, Nechama Haddad, Claus-Eric Ott, Antonio Martinez Carrascal, Janelle Howell, Nadja Ehmke, Irena Vrecar, Purificación Marín Reina, Oleg V. Borisov, Konstanze Hoertnagel, Denise Horn, Nurulhuda Hajjir, Sabine Rudnik, Sebastian Köhler, Marie Coutelier, Nicole Revencu, Ingrid Weber, Stanislav Rosnev, Johannes Zschocke, Claudia Ciaccio, Or Shanoon, Nicole Fleischer, Anna Schossig, Luitgard Graul-Neumann, Guy Nadav, Dione Aguilar, Susanne B. Kamphausen, Markus M. Nöthen, Allan Bayat, Borut Peterlin, Heidi Beate Bentzen, Øivind Braaten, Eun Kyung Suk, Magdalena Danyel, Ming W. Yeung, Catherine Karimov, Angela M. Kaindl, Luis Becerra-Solano, Tzung-Chien Hsieh, Svenja Daschkey, Laura Morlan Herrador, Christine Fauth, Stefan Mundlos, Ulrich A. Schatz, Jean Tori Pantel, Alain Verloes, Heinz Gabriel, Kirsten Cremer, Alexander Lavrov, Karen W. Gripp, Martin A. Mensah, Kristen Park, Yves Sznajer, Jakob Hertzberg, Korina Winter, Max Schubach, Sofia Douzgou, Peter Krawitz, Hadil Kathom, Linda M. Randolph, Björn Fischer-Zirnsak, Maximilian Leitheiser, Tom Kamphans, Asya Gusina, Omri Bar, Hilda David Eden, Koenraad Devriendt, Dejan Đukić, Elisabeth Mangold, Laura Pölsler

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Hsieh, T C, Mensah, M A, Pantel, J T, Aguilar, D, Bar, O, Bayat, A, Becerra-Solano, L, Bentzen, H B, Biskup, S, Borisov, O, Braaten, O, Ciaccio, C, Coutelier, M, Cremer, K, Danyel, M, Daschkey, S, Eden, H D, Devriendt, K, Wilson, S, Douzgou, S, Đukić, D, Ehmke, N, Fauth, C, Fischer-Zirnsak, B, Fleischer, N, Gabriel, H, Graul-Neumann, L, Gripp, K W, Gurovich, Y, Gusina, A, Haddad, N, Hajjir, N, Hanani, Y, Hertzberg, J, Hoertnagel, K, Howell, J, Ivanovski, I, Kaindl, A, Kamphans, T, Kamphausen, S, Karimov, C, Kathom, H, Keryan, A, Knaus, A, Köhler, S, Kornak, U, Lavrov, A, Leitheiser, M, Lyon, G J, Fagerberg, C R, Robinson, P N, Rosnev, S, Rudnik, S, Rudolf, G, Schatz, U, Schossig, A, Schubach, M, Shanoon, O, Sheridan, E, Smirin-Yosef, P & Spielmann, M 2019, ' PEDIA : prioritization of exome data by image analysis ', Genetics in Medicine, vol. 21, no. 12, pp. 2807-2814 . https://doi.org/10.1038/s41436-019-0566-2
Genetics in medicine, Vol. 21, no.12, p. 2807-2814 (2019)
Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Computer science, 030105 genetics & heredity, computer.software_genre, computer vision, Databases, Genetic, Image Processing, Computer-Assisted, Exome, Genetics (clinical), Exome sequencing, variant prioritization, 0303 health sciences, 030305 genetics & heredity, dysmorphology, Genomics, 3. Good health, Phenotype, Cohort, Medical genetics, Female, exome diagnostics, Algorithms, Natural language processing, deep learning, Prioritization, medicine.medical_specialty, Article, Image (mathematics), 03 medical and health sciences, Similarity (network science), Similarity (psychology), medicine, Humans, Gene, 030304 developmental biology, business.industry, Deep learning, Computational Biology, Sequence Analysis, DNA, 030104 developmental biology, Artificial intelligence, business, computer, Software

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6913bf1dd7a7d57956d68ddf9003b59f

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

المصدر: Wellcome Open Research

مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Pediatrics, medicine.medical_specialty, viruses, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology, Clinical study, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, medicine, Kyphoscoliosis, overgrowth, Tatton-Brown-Rahman, business.industry, Articles, biochemical phenomena, metabolism, and nutrition, medicine.disease, Obesity, Hypotonia, 3. Good health, 030104 developmental biology, Current management, intellectual disability, 030220 oncology & carcinogenesis, DNMT3A, TATTON-BROWN-RAHMAN SYNDROME, medicine.symptom, business, Research Article

وصف الملف: application/pdf; Electronic-eCollection; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb29b45a78aef0b499193eccdce2526
https://openaccess.sgul.ac.uk/id/eprint/109923/1/a3803595-225c-457f-9a53-ef709c75251a_14430_-_Nazneen_Rahman.pdf

المؤلفون: Miroslav P, Milev, Claudio, Graziano, Daniela, Karall, Willemijn F E, Kuper, Noraldin, Al-Deri, Duccio Maria, Cordelli, Tobias B, Haack, Katharina, Danhauser, Arcangela, Iuso, Flavia, Palombo, Tommaso, Pippucci, Holger, Prokisch, Djenann, Saint-Dic, Marco, Seri, Daniela, Stanga, Giovanna, Cenacchi, Koen L I, van Gassen, Johannes, Zschocke, Christine, Fauth, Johannes A, Mayr, Michael, Sacher, Peter M, van Hasselt

المصدر: Journal of medical genetics. 55(11)

مصطلحات موضوعية: Adolescent, Genotype, Biopsy, DNA Mutational Analysis, Mutation, Missense, Fibroblasts, Magnetic Resonance Imaging, Protein Transport, Phenotype, Neurodevelopmental Disorders, rab GTP-Binding Proteins, Child, Preschool, Mutation, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Alleles, Biomarkers, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8fb3ea7c40b7341d51f626cc66892fd3
https://pubmed.ncbi.nlm.nih.gov/30120216

المؤلفون: Johannes Zschocke, Ulrich A. Schatz, Birgit Krabichler, Harald Schober, Judith Dobesberger, Claudia Lamina, Dieter Kotzot, Iris Unterberger, Gerhard Luef, Christine Fauth

المصدر: European journal of medical genetics. 62(11)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Mother to child transmission, Adolescent, Ring chromosome, Chromosomes, Human, Pair 20, Ring chromosome 20, 030105 genetics & heredity, Biology, Ring (chemistry), 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, Ring Chromosomes, Age of Onset, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Epilepsy, Mosaicism, Chromosome, General Medicine, medicine.disease, Uniparental disomy, Infectious Disease Transmission, Vertical, SNP genotyping, Telomere, 030104 developmental biology, Phenotype, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae0a486db58a2a44ac0788ee638add0
https://pubmed.ncbi.nlm.nih.gov/30385235

المؤلفون: Daniela Karall, Katharina Steindl, Christine Fauth, Pascal Joset, Christian R. Marshall, Oliver Maier, Sebastian Böhm, Alessandra Baumer, Annick Toutain, Sandra A. Farrell, Johannes Zschocke, Anita Rauch, Rosanna Weksberg, Martina Witsch-Baumgartner

المصدر: American Journal of Medical Genetics Part A. 170:392-402

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Encephalopathy, Severe muscular hypotonia, 030105 genetics & heredity, Biology, medicine.disease_cause, Bioinformatics, 03 medical and health sciences, Germline mutation, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Germ-Line Mutation, Genetics (clinical), Fetus, Mutation, Coarse facial features, Infant, Newborn, Macrocephaly, Membrane Proteins, Genetic Diseases, X-Linked, Simpson–Golabi–Behmel syndrome, medicine.disease, Pedigree, Phenotype, Endocrinology, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5940cd0dc0a44f67950ea77b991c60e
https://doi.org/10.1002/ajmg.a.37452

المؤلفون: Adnan Y. Manzur, Jacek Pilch, Neeti Ghali, Jahannaz Dastgir, Diana Johnson, Cecilia Giunta, Nayana Lahiri, Anthony Vandersteen, Uschi Lindert, Christine Fauth, Angela F. Brady, Rebecca C. Pollitt, Bernarda Lozić, Gudrun Schreiber, Ebtesam M. Abdalla, Nora Shannon, Martina Witsch-Baumgartner, Glenda Sobey, Ariana Kariminejad, F. Michael Pope, James J. Collins, Marianne Rohrbach, Jenny Morton, Sandra Donkervoort, Johannes Koch, Johannes Zschocke, Fleur S van Dijk, Carsten G. Bönnemann, Marius E. Kraenzlin, Matthias Baumann

المساهمون: University of Zurich, Giunta, Cecilia

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Joint hypermobility, medicine.medical_specialty, Pathology, 2716 Genetics (clinical), Hearing loss, DNA Mutational Analysis, Connective tissue, 610 Medicine & health, Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, FKBP22, medicine, Humans, Original Research Article, Child, Myopathy, Alleles, Genetic Association Studies, Genetics (clinical), kyphoscoliotic Ehlers-Danlos syndrome, Chromosome Mapping, Peptidylprolyl Isomerase, mutations, medicine.disease, diagnostic criteria, FKBP14, FKBP22, kyphoscoliotic Ehlers-Danlos syndrome, mutations, Magnetic Resonance Imaging, Natural history, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Ehlers–Danlos syndrome, 10036 Medical Clinic, FKBP14, Child, Preschool, diagnostic criteria, Mutation, Cohort, Ehlers-Danlos Syndrome, Female, medicine.symptom, Magnetic Resonance Angiography, 030217 neurology & neurosurgery

وصف الملف: Zora.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7bfeb67d6143c933e1cc7fd8aeffb9
https://www.zora.uzh.ch/id/eprint/145773/

المؤلفون: Christine, Fauth, Annick, Toutain

المصدر: Prenatal diagnosis. 37(10)

مصطلحات موضوعية: Heart Defects, Congenital, Fetus, Intellectual Disability, Karyotyping, Prenatal Diagnosis, Exome Sequencing, Humans, Abnormalities, Multiple, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, Syndrome, Gigantism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::22a8ff28eaad8a768513bff4aa117c38
https://pubmed.ncbi.nlm.nih.gov/27589329

المؤلفون: Margaret H. Yang, Peter H. Byers, Mitzi L. Murray, Christine Fauth

المصدر: American Journal of Medical Genetics Part A. 164:1750-1755

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hearing loss, DNA Mutational Analysis, Gastroenterology, Inferior mesenteric artery, Short stature, Mesenteric Artery, Superior, Celiac artery, Internal medicine, medicine.artery, Mesenteric Vascular Occlusion, Genetics, medicine, Humans, Superior mesenteric artery, Myopathy, Kyphoscoliosis, Genetic Association Studies, Genetics (clinical), business.industry, Facies, Peptidylprolyl Isomerase, medicine.disease, Pedigree, Phenotype, Ehlers–Danlos syndrome, Mutation, Ehlers-Danlos Syndrome, medicine.symptom, business, Magnetic Resonance Angiography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cab2191f6bdb01e04695455358459b4
https://doi.org/10.1002/ajmg.a.36492