-
1دورية أكاديمية
المؤلفون: Juliane Sachsenweger, Rebecca Jansche, Tatjana Merk, Benedikt Heitmeir, Miriam Deniz, Ulrike Faust, Cristiana Roggia, Andreas Tzschach, Christopher Schroeder, Angelika Riess, Helmut Pospiech, Hellevi Peltoketo, Katri Pylkäs, Robert Winqvist, Lisa Wiesmüller
المصدر: Cell Death and Disease, Vol 14, Iss 5, Pp 1-15 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-4889
-
2دورية أكاديمية
المؤلفون: Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer
المصدر: JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
مصطلحات موضوعية: multiple sulfatase deficiency, SUMF1, metachromatic leukodystrophy, lysosomal storage disorder, natural course, arylsulfatase A deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
3دورية أكاديمية
المؤلفون: Thorsten Schmidt, Anastasia Gazou, Angelika Rieß, Olaf Rieß, Kathrin Grundmann-Hauser, Ruth Falb, Malou Schadeck, Tilman Heinrich, Mahkameh Abeditashi, Jana Schmidt, Ulrike A. Mau-Holzmann, Kai P. Schnabel
المصدر: BMC Medical Education, Vol 20, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Audience response system, Classroom response system, eduVote, Assessment, Feedback, Special aspects of education, LC8-6691, Medicine
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
5
المؤلفون: Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra
المساهمون: Clinical Genetics, MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicineمصطلحات موضوعية: Neuroinformatics, Heterozygote, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DNA Helicases, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CHD3, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Reduced penetrance, Phenotype, All institutes and research themes of the Radboud University Medical Center, RARE, SDG 3 - Good Health and Well-being, Neurodevelopmental disorder, Neurodevelopmental Disorders, Variable expressivity, Humans, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical), Mi-2 Nucleosome Remodeling and Deacetylase Complex, Inherited variants
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3
https://doi.org/10.1016/j.gim.2022.02.014 -
6
المؤلفون: Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, Natalia Carmen Prodan, Stefanie Beck‐Wödl, Ute Grasshoff, Tilman Heinrich, Angelika Riess, Martin Kehrer, Ruth J. Falb, Alexandra Liebmann, Cristiana Roggia, Miriam Stampfer, Malou Schadeck, Amelie J. Müller, Mona Grimmel, Petra Stöbe, Darja Gauck, Rebecca Buchert‐Lo, Sarah Baumann, Karin Schäferhoff, Miriam Bertrand, Benita Menden, Marc Sturm, Leon Schütz, Olaf Riess, Stephan Ossowski, Tobias B. Haack, Karl Oliver Kagan
المصدر: Prenatal Diagnosis. 42:901-910
مصطلحات موضوعية: Adult, Parents, Fetus, Pregnancy, Hydrops Fetalis, Prenatal Diagnosis, Exome Sequencing, Humans, Obstetrics and Gynecology, Exome, Female, Ultrasonography, Prenatal, Genetics (clinical)
-
7
المؤلفون: Lottie D, Morison, Elisabeth, Meffert, Miriam, Stampfer, Irene, Steiner-Wilke, Brigitte, Vollmer, Katrin, Schulze, Tracy, Briggs, Ruth, Braden, Adam, Vogel, Daisy, Thompson-Lake, Chirag, Patel, Edward, Blair, Himanshu, Goel, Samantha, Turner, Ute, Moog, Angelika, Riess, Frederique, Liegeois, David A, Koolen, David J, Amor, Tjitske, Kleefstra, Simon E, Fisher, Christiane, Zweier, Angela T, Morgan
المصدر: Journal of medical genetics.
-
8Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
المؤلفون: Katherine A. Bosanko, Jennifer L. Fish, Antonio Martinez-Monseny, Amy M. DiMarino, Yuri A. Zarate, Demitrios Dedousis, Anna L. Mitchell, Mir Reza Bekheirnia, Veronica Seidel, David T. Miller, Lea Velsher, Cynthia J. Curry, Aisling R. Caffrey, Mary Ann Thomas, Tyler Mark Pierson, Meena Balasubramanian, Nicole Fleischer, John M. Graham, Angelika Riess, Kristina Cusmano-Ozog, Ronald V. Lacro
المصدر: CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, facial recognition technology, genotype-phenotype correlation, Hypertension, Pulmonary, Dwarfism, Gestational Age, 030105 genetics & heredity, Growth development, 03 medical and health sciences, Facial dysmorphism, Neurodevelopmental disorder, Thinness, Internal medicine, medicine.artery, SATB2-associated syndrome, Ascending aorta, Genetics, medicine, Humans, Child, Genetic Association Studies, Genetics (clinical), business.industry, SATB2, Infant, Matrix Attachment Region Binding Proteins, medicine.disease, Pulmonary hypertension, Phenotype, Collagen Type III, 030104 developmental biology, Increased risk, Child, Preschool, Chromosomes, Human, Pair 2, Face, Microcephaly, glass syndrome, Female, Chromosome Deletion, Underweight, medicine.symptom, business, Collagen Type V, 2q33.1 deletion, Transcription Factors
وصف الملف: application/pdf
-
9
المؤلفون: Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani
المصدر: American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024مصطلحات موضوعية: Proband, Male, Microcephaly, metabolism [Neurodevelopmental Disorders], Care4Rare Canada Consortium, Proteome, Loss of Heterozygosity, Medical and Health Sciences, Germline, Mice, transcriptomics, Neurodevelopmental disorder, Neoplasm Proteins/genetics, Cell Movement, Loss of Function Mutation, thin corpus callosum, BCAS3, 2.1 Biological and endogenous factors, Global developmental delay, microcephaly, Aetiology, Child, analysis [Proteome], Genetics (clinical), Fibroblasts/metabolism, Genetics, Mice, Knockout, Pediatric, Genetics & Heredity, 0303 health sciences, 030305 genetics & heredity, BCAS3 protein, human, Biological Sciences, ddc, Neoplasm Proteins, Pedigree, Child, Preschool, metabolism [Neoplasm Proteins], Knockout mouse, Drosophila, Female, UAS-Gal4, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Adult, Adolescent, pyramidal tract involvement, Knockout, global developmental delay, Biology, Short stature, Article, 03 medical and health sciences, Young Adult, proteomics, ddc:570, etiology [Neurodevelopmental Disorders], fibroblasts, Proteome/analysis, medicine, pathology [Neurodevelopmental Disorders], Neurodevelopmental Disorders/etiology, Animals, Humans, Allele, Preschool, 030304 developmental biology, genetics [Neoplasm Proteins], Human Genome, Infant, medicine.disease, neurodevelopmental disorder, Brain Disorders, Genomics England Research Consortium, Neurodevelopmental Disorders, Congenital Structural Anomalies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207 -
10
المؤلفون: Emanuela Scarano, Tomasz Stokowy, Tzung-Chien Hsieh, Florian Erger, Janine Altmueller, Christian Gilissen, Gunnar Houge, Trine Prescott, Christian Kubisch, Andrea Bevot, Maria Redfors, Davor Lessel, Laura Mazzanti, Torunn Fiskerstrand, Angelika Riess, Dejan Đukić, Peter Krawitz, Cecilie F. Rustad, Christian Netzer, Itamar Jobani, Felix Marbach
المصدر: American Journal of Human Genetics, 104, 4, pp. 749-757
American Journal of Human Genetics, 104, 749-757مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Computational biology, Biology, 03 medical and health sciences, Progeria, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Artificial Intelligence, Report, Cell Line, Tumor, Genetics, medicine, Humans, Mass Screening, Supernumerary, Diagnosis, Computer-Assisted, Child, Gene, Genetics (clinical), Cell Nucleus, Genetic disorder, Membrane Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Geneticist, Fibroblasts, Prognosis, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Face, Mutation, Nuclear lamina, Intention tremor, medicine.symptom, Medical Informatics, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e979612262a8a27f16eb75d61eabdf7
https://doi.org/10.1016/j.ajhg.2019.02.021
Find this article in full text from Springer Verlag. 
Full Text Finder