المؤلفون: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Tracheal agenesis, Tracheal atresia, Congenital high airway obstruction sequence (CHAOS), VACTERL association, Sirenomelia, MAPK11 variant, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a27bc7de37c240fbb01c3dfa427cba1f

المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)

مصطلحات موضوعية: 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2

المؤلفون: Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100225- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442300225X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/53490ee809494458b2dfb9c17cc26a84

المؤلفون: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824

المؤلفون: Yaoxian Xu, Christoph Kuppe, Javier Perales-Patón, Sikander Hayat, Jennifer Kranz, Ali T. Abdallah, James Nagai, Zhijian Li, Fabian Peisker, Turgay Saritas, Maurice Halder, Sylvia Menzel, Konrad Hoeft, Annegien Kenter, Hyojin Kim, Claudia R. C. van Roeyen, Michael Lehrke, Julia Moellmann, Thimoteus Speer, Eva M. Buhl, Remco Hoogenboezem, Peter Boor, Jitske Jansen, Cordula Knopp, Ingo Kurth, Bart Smeets, Eric Bindels, Marlies E. J. Reinders, Carla Baan, Joost Gribnau, Ewout J. Hoorn, Joachim Steffens, Tobias B. Huber, Ivan Costa, Jürgen Floege, Rebekka K. Schneider, Julio Saez-Rodriguez, Benjamin S. Freedman, Rafael Kramann

المساهمون: Developmental Biology, Internal Medicine, Hematology, Cell biology

المصدر: Nature Genetics, 54(11), 1690-1701. Nature Publishing Group
Nature Genetics, 54, 1690-1701
Nature Genetics, 54, 11, pp. 1690-1701

مصطلحات موضوعية: Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], SDG 3 - Good Health and Well-being, Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc7f4f24db25c7f607da4dcacac199a
https://hdl.handle.net/2066/288220

المؤلفون: Cordula Knopp, Robin Steiner, Eva Lausberg, Caroline von Hoegen, Sabine Busse, Robert Meyer, Katja Eggermann, Herdit Schüler, Matthias Begemann, Thomas Eggermann, Ingo Kurth, Jörg B. Schulz, Miriam Elbracht, Andrea Maier

المصدر: Dtsch Arztebl Int

مصطلحات موضوعية: Research Letter, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820fd7ffedb07d3ed91508fbef20460e
https://europepmc.org/articles/PMC10011718/

المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

مصطلحات موضوعية: Genetics, 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Mitochondria, Variant testing

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Evaluating_the_association_of_biallelic_OGDHL_variants_with_significant_phenotypic_heterogeneity/24670002

الاتاحة: https://doi.org/10.6084/m9.figshare.24670002.v1
https://figshare.com/articles/dataset/Additional_file_1_of_Evaluating_the_association_of_biallelic_OGDHL_variants_with_significant_phenotypic_heterogeneity/24670002

المؤلفون: Florian Erger, Rajindra Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, Cordula Knopp, Maxence Noel, Andrea Wenzel, Stefan Kohl, Nikolai Tschernoster, Gunter Rappl, Jutta Schröder-Braunstein, Felix Seibert, Holger Thiele, Martin Häusler, Lutz Weber, Maike Büttner-Herold, Miriam Elbracht, Sandra Cummings, Janine Altmüller, Sandra Habbig, Richard Cummings, Bodo Beck

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9af0cd83c115ccff4b2ac95995a5df15
https://doi.org/10.21203/rs.3.rs-1716400/v1

المؤلفون: Matthias Begemann, Steffen Koschmieder, Inger Johanne Thuestad, Mats Geijer, Christopher Lindberg, Kay Nolte, Elizabeth J. Luna, Anders Oldfors, Burkhard Gess, Yassir Abdul Rahim, Miriam Elbracht, Michael Gramlich, Lea Hitpass, Cordula Knopp, Hanns Lochmüller, Carola Hedberg-Oldfors, Robert Meyer, Kittichate Visuttijai, Eva Lausberg, Florian Kraft, Rebekka Götzl, Joachim Weis, Ingo Kurth, Kristjan Karason

المصدر: Brain

مصطلحات موضوعية: Male, 0301 basic medicine, cardiac disease, Pathology, medicine.medical_specialty, Adolescent, supervillin, 03 medical and health sciences, Nebulin, 0302 clinical medicine, Muscular Diseases, Loss of Function Mutation, Myosin, Autophagy, medicine, Humans, Myocyte, Age of Onset, Child, Muscle, Skeletal, Myopathy, education, Actin, education.field_of_study, biology, AcademicSubjects/SCI01870, Microfilament Proteins, Membrane Proteins, Muscle weakness, Original Articles, Corrigenda, Pedigree, 030104 developmental biology, Vacuoles, SVIL, biology.protein, Female, Supervillin, AcademicSubjects/MED00310, Neurology (clinical), medicine.symptom, Dystrophin, costameric protein, 030217 neurology & neurosurgery, myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4739e4be922c939aa2baef02d34b22d4
http://europepmc.org/articles/PMC7447519

المؤلفون: Yaoxian, Xu, Christoph, Kuppe, Javier, Perales-Patón, Sikander, Hayat, Jennifer, Kranz, Ali T, Abdallah, James, Nagai, Zhijian, Li, Fabian, Peisker, Turgay, Saritas, Maurice, Halder, Sylvia, Menzel, Konrad, Hoeft, Annegien, Kenter, Hyojin, Kim, Claudia R C, van Roeyen, Michael, Lehrke, Julia, Moellmann, Thimoteus, Speer, Eva M, Buhl, Remco, Hoogenboezem, Peter, Boor, Jitske, Jansen, Cordula, Knopp, Ingo, Kurth, Bart, Smeets, Eric, Bindels, Marlies E J, Reinders, Carla, Baan, Joost, Gribnau, Ewout J, Hoorn, Joachim, Steffens, Tobias B, Huber, Ivan, Costa, Jürgen, Floege, Rebekka K, Schneider, Julio, Saez-Rodriguez, Benjamin S, Freedman, Rafael, Kramann

المصدر: Nature genetics. 54(11)

مصطلحات موضوعية: Adult, Organoids, TRPP Cation Channels, Cysts, Humans, CD24 Antigen, Polycystic Kidney, Autosomal Dominant, Kidney

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::812c7dcb9c437b6515b8253ef3863144
https://pubmed.ncbi.nlm.nih.gov/36303074

المؤلفون: Torsten Pietsch, Miriam Elbracht, Sebastian M. Waszak, Florian Kraft, Felix Sahm, Daniel C. Bowers, Martin Mynarek, Udo Kontny, Jan O. Korbel, Pascale Varlet, Matthias Begemann, Stefan M. Pfister, Laurence Brugières, Cordula Knopp, Olga Moser, Paul A. Northcott, Murali Chintagumpala, Thomas Eggermann, Ingo Kurth, Tanvi Sharma, Stefan Rutkowski, Natalie Jäger, Amar Gajjar, Giles W. Robinson, Léa Guerrini-Rousseau

المصدر: Journal of Clinical Oncology

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Cancer Research, Bioinformatics, Germline, Receptors, G-Protein-Coupled, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Hedgehog Proteins, Prospective Studies, Child, Germ-Line Mutation, Exome sequencing, Medulloblastoma, Brain Neoplasms, business.industry, Infant, Heterozygote advantage, ORIGINAL REPORTS, DNA Methylation, medicine.disease, 030104 developmental biology, Oncology, Multicenter study, Pediatric Oncology, Child, Preschool, 030220 oncology & carcinogenesis, DNA methylation, Female, business, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b46665a285d6cae89bc80014bec7170
https://doi.org/10.1200/jco.19.00577

المؤلفون: Cordula Knopp, Petra Holschbach, Stephanie DiTroia, Maggie Brett, Ingo Kurth, Muna Al-Saffar, Ganeshwaran H. Mochida, Lynn Pais, Matthias Begemann, Jennifer E. Neil, Ene-Choo Tan, Angeline H. M. Lai, Lars Buschmann, Natja Haag, Christopher A. Walsh, Laila Bastaki, Florian Kraft

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, Microcephaly, Developmental Disabilities, Mutation, Missense, Diseases, Biology, Short stature, Article, Holoprosencephaly, Hypogonadotropic hypogonadism, Loss of Function Mutation, Intellectual Disability, Proto-Oncogene Proteins, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Allele, Child, Genetics (clinical), Disease genetics, Membrane Proteins, medicine.disease, Phenotype, Pedigree, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e34322a16a4382dff4e06b7c6480422
https://pubmed.ncbi.nlm.nih.gov/34413497

المؤلفون: Cordula Knopp, Michael Mull, B. Müller, Matthias Begemann, Martin Häusler, A. Stoppe, Ingo Kurth, Miriam Elbracht, R. Damen

المصدر: Parkinsonism & Related Disorders. 63:240-242

مصطلحات موضوعية: medicine.medical_specialty, Levodopa, business.industry, Medium spiny neuron, Endocrinology, Neurology, Internal medicine, Mutation (genetic algorithm), medicine, Neurology (clinical), PDE10A, Geriatrics and Gerontology, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1291ab28bf670ac3498e060ffdeaa1dc
https://doi.org/10.1016/j.parkreldis.2019.02.007

المؤلفون: Matthias Begemann, Thorsten Hornemann, Michael Mull, Markus Bergmann, G C Korenke, Gergely Karsai, Miriam Elbracht, Joachim Weis, Florian Kraft, Natja Haag, Cordula Knopp, Ingo Kurth, J. M. Schröder

المصدر: Nervenheilkunde.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c63c25d4278c0d3baf13e26de329ba86
https://doi.org/10.1055/s-0039-1685066

المؤلفون: Joachim Weis, Natja Haag, Matthias Begemann, Thorsten Hornemann, Ingo Kurth, Markus Bergmann, Regula Steiner, J. Michael Schröder, Alaa Othman, Saranya Suriyanarayanan, Benjamin Hänisch, Gergely Karsai, Miriam Elbracht, Florian Kraft, G. Christoph Korenke, Cordula Knopp, Michael Mull

المساهمون: University of Zurich, Hornemann, Thorsten

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Fatty Acid Desaturases, Male, Cellular differentiation, Mutant, Mutation, Missense, 610 Medicine & health, 2700 General Medicine, Neurological disorder, Biology, Lipid Metabolism, Inborn Errors, Cell Line, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Central Nervous System Diseases, Sphingosine, 540 Chemistry, Lipidomics, Exome Sequencing, medicine, Humans, Demyelinating Disorder, 10038 Institute of Clinical Chemistry, General Medicine, medicine.disease, Sphingolipid, Cell biology, 030104 developmental biology, medicine.anatomical_structure, chemistry, Amino Acid Substitution, 030220 oncology & carcinogenesis, Female, Clinical Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e00f4916f6e2e2c0739843fa8aab8bd3
https://europepmc.org/articles/PMC6391115/

المؤلفون: Matthias Begemann, Regula Steiner, Markus Bergmann, Gergely Karsai, Miriam Elbracht, Thorsten Hornemann, G C Korenke, Cordula Knopp, Florian Kraft, Saranya Suriyanarayanan, Michael Mull, Ingo Kurth, J. M. Schröder, Joachim Weis, Natja Haag, Hänisch B

مصطلحات موضوعية: 0303 health sciences, Metabolite, Cellular differentiation, Disease, Neurological disorder, Biology, medicine.disease, Sphingolipid, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine.anatomical_structure, chemistry, Peripheral nervous system, medicine, CRISPR, lipids (amino acids, peptides, and proteins), 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59721144d8b90069af77727ec0f29f9d
https://doi.org/10.1101/347591

المؤلفون: Klaus Zerres, Nadia Ortiz Bruechle, Thomas Eggermann, Peter Steuernagel, Ingo Kurth, Cordula Knopp

المصدر: Pediatric nephrology (Berlin, Germany). 32(10)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, TMEM67, Genetic counseling, DNA Mutational Analysis, 030105 genetics & heredity, Biology, Ciliopathies, Joubert syndrome, Ultrasonography, Prenatal, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, medicine, Humans, Genetic Testing, Meckel-Gruber Syndrome, Encephalocele, Genetics, Polycystic Kidney Diseases, Homozygote, Membrane Proteins, Abortion, Induced, Uniparental Disomy, medicine.disease, Uniparental disomy, Ciliopathy, Fetal Diseases, 030104 developmental biology, Nephrology, Karyotyping, Pediatrics, Perinatology and Child Health, Mutation, Female, Retinitis Pigmentosa, SNP array, Chromosomes, Human, Pair 8, Ciliary Motility Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c063161be4e58f458274b73d04da9b
https://pubmed.ncbi.nlm.nih.gov/28620746

المؤلفون: Peter Nürnberg, Kathi Hartmann, Cordula Knopp, Didier Herent, Michèle Mathieu-Dramard, Bernard Roméo, Guillaume Jedraszak, Amrathlal Rabbind Singh, Miriam Elbracht, Nadina Ortiz Bruechle, Peter Deutz, Klaus Zerres, Yuequan Shen, Johannes Oldenburg, Dominique Brémond-Gignac, Gilles Morin, Jacques Rochette, Elisabeth Bourges-Petit, Kerstin Konrad, Halima Ouadid-Ahidouch, Henri Sevestre

المصدر: Human Mutation. 35:1221-1232

مصطلحات موضوعية: Adult, Male, inorganic chemicals, medicine.medical_specialty, Adolescent, Migraine Disorders, Muscle Fibers, Skeletal, Erythrocytes, Abnormal, Biology, Endoplasmic Reticulum, medicine.disease_cause, Protein Structure, Secondary, Dyslexia, Calcium imaging, Internal medicine, Thrombocytopathy, Genetics, medicine, Humans, Point Mutation, Stromal Interaction Molecule 1, Allele, Child, Genetics (clinical), Aged, Calcium metabolism, Mutation, Ichthyosis, Endoplasmic reticulum, Infant, Newborn, Infant, Membrane Proteins, STIM1, Middle Aged, Miosis, medicine.disease, Neoplasm Proteins, Pedigree, Endocrinology, Child, Preschool, Muscle Fatigue, Calcium, Female, Blood Platelet Disorders, Calcium Channels, Spleen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688184c824198aaa3d697fa512f5f730
https://doi.org/10.1002/humu.22621

المؤلفون: K. Schoner, Matthias Begemann, N. Ortiz Brüchle, Thomas Eggermann, Carsten Bergmann, Klaus Zerres, Sabine Rudnik-Schöneborn, Cordula Knopp

المصدر: Molecular and cellular probes. 29(5)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Biology, Ciliopathies, Polymorphism, Single Nucleotide, Joubert syndrome, Retina, Consanguinity, Bardet–Biedl syndrome, Mutation Rate, Cerebellum, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Eye Abnormalities, Genetic Testing, Meckel syndrome, Molecular Biology, Bardet-Biedl Syndrome, Encephalocele, Oligonucleotide Array Sequence Analysis, Genetics, Polycystic Kidney Diseases, urogenital system, High-Throughput Nucleotide Sequencing, Cell Biology, Sequence Analysis, DNA, Kidney Diseases, Cystic, Disease gene identification, medicine.disease, Pedigree, Mutation (genetic algorithm), Mutation, Female, Retinitis Pigmentosa, SNP array, Ciliary Motility Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e9aa094bad02ca279573c47c2638d2
https://pubmed.ncbi.nlm.nih.gov/26003401

المؤلفون: Thomas Eggermann, Sabine Rudnik-Schöneborn, M. Gencik, Cordula Knopp, Sabrina Spengler, Klaus Zerres

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Pediatrics, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Organomegaly, Gigantism, Diagnosis, Differential, Young Adult, Clinical history, Internal medicine, Intellectual Disability, Genetics, medicine, Macroglossia, Humans, Postnatal overgrowth, Child, Genetics (clinical), business.industry, Infant, Newborn, Infant, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, medicine.disease, Umbilical hernia, Embryonal tumors, Endocrinology, Overgrowth syndrome, Child, Preschool, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7674a27b54269f5c0accbd9b0fcda7b8
https://pubmed.ncbi.nlm.nih.gov/25339544