المؤلفون: Robert Smigiel, Rafał Płoski, Ewa Obersztyn, Mateusz Dawidziuk, Monika Bekiesińska-Figatowska, Małgorzata Rydzanicz, Pawel Gawlinski, Ryszard Slezak, Wojciech Wiszniewski, Agnieszka Pollak

المصدر: Genes
Genes, Vol 12, Iss 594, p 594 (2021)
Volume 12
Issue 4

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Microcephaly, Genotype, Cell Cycle Proteins, Nerve Tissue Proteins, Disease, QH426-470, Compound heterozygosity, Article, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, Humans, Medicine, microcephaly, Gene, Genetics (clinical), ATRX, business.industry, WDR62 gene, Infant, Newborn, Infant, medicine.disease, Phenotype, Pedigree, Malformations of Cortical Development, MCPH2, 030104 developmental biology, intellectual disability, Mutation, Female, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846490a642c7cf4bbff6d91b9eb94046Test
http://europepmc.org/articles/PMC8072659Test

المؤلفون: Małgorzata Rydzanicz, Peter J. Brophy, Joanna Kosińska, Anna Biernacka, Robert Smigiel, Dorota Mikolajkow, Barbara Królak-Olejnik, Maria M. Sasiadek, Diane L. Sherman, Anna Walczak, Witalij Andrzejewski, Rafał Płoski, Paweł Krajewski, Maria Boczar, Malgorzata Marciniak, Piotr Gasperowicz, Piotr Stawiński

المصدر: Human Molecular Genetics
Smigiel, R, Sherman, D L, Rydzanicz, M, Walczak, A, Mikolajkow, D, Krolak-Olejnik, B, Kosinska, J, Gasperowicz, P, Biernacka, A, Stawinski, P, Marciniak, M, Andrzejewski, W, Boczar, M, Krajewski, P, Sasiadek, M M, Brophy, P J & Ploski, R 2018, ' Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia ', Human Molecular Genetics, vol. 27, no. 21, pp. 3669–3674 . https://doi.org/10.1093/hmg/ddy277Test

مصطلحات موضوعية: 0301 basic medicine, Proband, Gene isoform, NFASC, DNA Mutational Analysis, Biology, medicine.disease_cause, Mice, 03 medical and health sciences, 0302 clinical medicine, Paranodal junction, Conditioning, Psychological, Genetics, medicine, Animals, Humans, Protein Isoforms, Nerve Growth Factors, Molecular Biology, Genetics (clinical), Mutation, Node of Ranvier, Homozygote, Infant, Syndrome, General Medicine, Hypotonia, Cell biology, Intercellular Junctions, 030104 developmental biology, medicine.anatomical_structure, nervous system, Muscle Hypotonia, Neuroglia, Female, Poland, General Article, Nervous System Diseases, medicine.symptom, Cell Adhesion Molecules, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9905faa3345aeb132ad3094601ef270cTest
https://doi.org/10.1093/hmg/ddy277Test

المؤلفون: Grażyna Kostrzewa, Malgorzata Sasiadek, Rafał Płoski, Mateusz Biela, Piotr Gasperowicz, Anna Biernacka, Elżbieta Szmida, Dominik Wawrzuta, Joanna Kosińska, Robert Smigiel, Agnieszka Koppolu, Anna Walczak, Victor Murcia-Pienkowski, Małgorzata Rydzanicz

المصدر: Journal of Human Genetics. 63:517-520

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, medicine.disease_cause, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Congenital Hypothyroidism, Genetics, medicine, Humans, Abnormalities, Multiple, Allele, Gene, Alleles, Genetics (clinical), Exome sequencing, Weaver syndrome, Mutation, business.industry, EZH2, Polycomb Repressive Complex 2, Macrocephaly, Facies, Infant, medicine.disease, Phenotype, 030104 developmental biology, Amino Acid Substitution, Overgrowth syndrome, medicine.symptom, business, Hand Deformities, Congenital, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297900729d0e0657278c1c4edcaa6205Test
https://doi.org/10.1038/s10038-017-0391-xTest

المؤلفون: Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta

المساهمون: Cell biology, Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المصدر: Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221Test
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221Test
Volume 20
Issue 9

مصطلحات موضوعية: 0301 basic medicine, Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, Microcephaly/diagnosis, Settore MED/03 - GENETICA MEDICA, Bioinformatics, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Hirschsprung Disease/diagnosis, BOX 1B GENE, Abnormalities, Multiple/genetics, Genotype, Intellectual disability, Medicine and Health Sciences, Missense mutation, Mowat-Wilson syndrome, Family history, Child, Genetics (clinical), BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Intellectual Disability/diagnosis, Phenotype, ZEB2 gene. Mowat-Wilson syndrome, intellectual disability, 3. Good health, SIBLINGS, Child, Preschool, Microcephaly, Female, Adult, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Adolescent, 03 medical and health sciences, Genetic variation, medicine, Humans, Abnormalities, Multiple, Hirschsprung Disease, RECURRENCE, ZFHX1B MUTATIONS, Genetic Association Studies, Genetic association, Zinc Finger E-box Binding Homeobox 2, SPECTRUM, SMAD-INTERACTING PROTEIN-1, business.industry, CLINICAL-FEATURES, ZEB2 gene. Mowat-Wilson syndrome, Biology and Life Sciences, Facies, Infant, HIRSCHSPRUNG-DISEASE, medicine.disease, Zinc Finger E-box Binding Homeobox 2/genetics, DELINEATION, Genetic Association Studies/methods, 030104 developmental biology, Mutation, business, MENTAL-RETARDATION

وصف الملف: application/pdf; Print-Electronic; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301Test
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9daTest

المؤلفون: I. M. Krzyzewska, Abeltje M. Polstra, Marcel M.A.M. Mannens, Monika Anna Chomczyk, Alex V. Postma, Jacek Niklinski, Robert Smigiel, Peter Henneman, Karolina Pesz, Andrea Venema, Jan Maarten Cobben, Adri Mul

المصدر: Epigenomics. 11(7)

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Adolescent, Biology, Zinc Finger Protein Gli2, Bioinformatics, Receptors, Tumor Necrosis Factor, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Epigenetics, Child, reproductive and urinary physiology, Neuropeptides, Infant, Newborn, Infant, Nuclear Proteins, DNA Methylation, Prognosis, Phenotype, female genital diseases and pregnancy complications, 030104 developmental biology, Differentially methylated regions, Fetal Alcohol Spectrum Disorders, Genetic Loci, 030220 oncology & carcinogenesis, Fetal Alcohol Spectrum Disorder, Case-Control Studies, Child, Preschool, DNA methylation, Cohort, Dystrophin-Associated Proteins, Differential Methylation, Female, Biomarkers, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d89b9dd521920fdbaa02cf0515e80e3Test
https://pubmed.ncbi.nlm.nih.gov/30873861Test

المؤلفون: Robert Smigiel, Géraldine Joly-Helas, Linyan Meng, Gregory M. Cooper, Nolwenn Jean-Marçais, Christel Thauvin-Robinet, Bruno Kieffer, Christopher T. Gordon, Laurence Faivre, Rhonda E. Schnur, Sarah L. Dugan, Seema R. Lalani, Heather C Mefford, Susan M. Hiatt, Marlène Rio, Seiamak Bahram, Jamel Chelly, Caroline Schluth-Bolard, Tatiana Tvrdik, Alison M. Muir, Eva Erdmann, Aline Kolmer, Aurore Garde, Angélique Pichot, Raphael Carapito, Mary K. Kukolich, Andrea M. Lewis, David Hunt, Clémantine Dimartino, Aurore Morlon, Anne Molitor, Ingrid M. Wentzensen, Fabien Dutreux, Nicodème Paul, Carlos A. Bacino, Nina B. Gold, Frédéric Tran Mau-Them, Olaf Bodamer, Deciphering Developmental Disorders Study, Zijie Sun, Pinar Bayrak-Toydemir, Heather P. Crawford, Victoria Harrison, Jocelyn Céraline, Jeanne Amiel, Mira Kharbanda, Christina Hung, A. Hanauer, Anne-Marie Guerrot, David Viskochil, Bertrand Isidor, Maya Chopra, Kirsty McWalter, Lydie Naegely, Meredith Phillips, Xia Wang, Rafał Płoski, Noel Mensah-Bonsu, Ekaterina L. Ivanova, Magalie S. Leduc

المساهمون: Immuno-Rhumatologie Moléculaire, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, [SDV]Life Sciences [q-bio], Developmental Disabilities, Aucun, Biology, 030226 pharmacology & pharmacy, Transactivation, 03 medical and health sciences, Mice, Neurodevelopmental disorder, 0302 clinical medicine, Report, Intellectual Disability, Coactivator, medicine, Genetics, Animals, Humans, Point Mutation, Allele, Child, Exome, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Point mutation, Correction, Infant, Syndrome, medicine.disease, Androgen receptor, 030104 developmental biology, Child, Preschool, Female, 030217 neurology & neurosurgery, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce89018be6a7579f0f2e0f77c8b7d7Test

المؤلفون: Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam

المساهمون: Clinical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah, Dam, Sipko van, Hoover-Fong, Julie, Telegrafi, Aida, Destree, Anne, Smigiel, Robert, Lambie, Lindsday, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., Rocha, Katia M. da, Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Donato, Nataliya Di, Deshpande, Charu, Vandersteen, Anthony, Lourenço, Charles Marques, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., Vries, Bert B. A. de, Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, Bon, Bregje W. van, School of Medicine, Department of Genetics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL)

المصدر: PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Somatic cell, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Gene Identification and Analysis, Gene Expression, medicine.disease_cause, Biochemistry, Germline, Hematologic Cancers and Related Disorders, Craniofacial Abnormalities, Exon, Database and Informatics Methods, Animal Cells, Medicine and Health Sciences, Nuclear protein, Child, Genetics (clinical), ATYPICAL CML, MYELODYSPLASTIC SYNDROME, Connective Tissue Cells, Genetics, Medicine, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], CLONAL HEMATOPOIESIS, Hematology, CHRONIC NEUTROPHILIC LEUKEMIA, Germline Mutation, Phenotype, 3. Good health, Cell Transformation, Neoplastic, Oncology, Connective Tissue, Child, Preschool, Hematologic Neoplasms, Female, Cellular Types, Anatomy, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], Hand Deformities, Congenital, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Research Article, Neuroinformatics, lcsh:QH426-470, Blotting, Western, Nails, Malformed, Protein degradation, Biology, Research and Analysis Methods, Cell Line, PROGRESSIVE BRAIN ATROPHY, 03 medical and health sciences, Germline mutation, Intellectual Disability, Leukemias, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOID-LEUKEMIA, Protein Interactions, Molecular Biology, Mutation Detection, Ecology, Evolution, Behavior and Systematics, Genetic Association Studies, Germ-Line Mutation, Cell Proliferation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHILDHOOD-CANCER, Gene Expression Profiling, DISEASE PROGRESSION, Infant, Newborn, Biology and Life Sciences, Cancers and Neoplasms, Proteins, Infant, CSF3R T618I, Cell Biology, Fibroblasts, Chronic neutrophilic leukemia, Chronic myeloid-leukemia, Juvenile myelomonocytic leukemia, Progressive brain atrophy, Myelodysplastic syndrome, Clonal hematopoiesis, Disease progression, Childhood-cancer, Atypical cml, Csf3r T618i, lcsh:Genetics, 030104 developmental biology, Biological Tissue, Biological Databases, HEK293 Cells, Mutation, Mutation Databases, Cancer research, Somatic Mutation, Carcinogenesis, Carrier Proteins

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e06cd71c14234bbd4c39a6af8c3d1ffTest
http://europepmc.org/articles/PMC5386295Test

المؤلفون: Marie Gonzales, Alice Goldenberg, Jean-Luc Alessandri, Charles Decaestecker, Alain Verloes, Daphné Lehalle, Marie-Line Jacquemont, Marlène Rio, Muriel Holder-Espinasse, Christopher T. Gordon, Alexandre Vasiljevic, Michel Vekemans, Loïc de Pontual, Sandrine Marlin, Laurent Pasquier, Didier Lacombe, Robert Smigiel, Lucile Boutaud, Sylvie Manouvrier-Hanu, Valérie Malan, Arnold Munnich, Jeanne Amiel, Stanislas Lyonnet, Christel Thauvin-Robinet, Roseline Caumes, Geneviève Baujat, Odile Boute-Benejean, Florence Petit, Myriam Oufadem, Gilles Morin, Neus Baena, Clarisse Baumann, Dominique Gaillard, Tania Attié-Bitach, Géraldine Goudefroye, Michèle Mathieu-Dramard

المصدر: Human Mutation. 35:478-485

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Hearing loss, Haploinsufficiency, Disease, Choanal atresia, Biology, Anus, Imperforate, Diagnosis, Differential, Hearing Loss, Bilateral, Pregnancy, Intellectual Disability, Prenatal Diagnosis, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Ear, External, Child, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Ophthalmoplegia, Infant, Peptide Elongation Factors, medicine.disease, External ear malformation, Thrombocytopenia, Phenotype, Child, Preschool, Atresia, Mutation, Female, medicine.symptom, Hand Deformities, Congenital, Mandibulofacial Dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6659cac9db0e922802d1c03c40d32bdbTest
https://doi.org/10.1002/humu.22517Test

المؤلفون: Ryszard Slezak, Aleksandra Jakubiak, Robert Smigiel, Wojciech Jaworski, Raoul C.M. Hennekam, Dariusz Patkowski, Maria Paola Lombardi

المصدر: American journal of medical genetics. Part A. (5):1102-1105

مصطلحات موضوعية: Omphalocele, Anophthalmia, business.industry, Infant, Ectopia cordis, Anatomy, medicine.disease, Severity of Illness Index, Focal dermal hypoplasia, PORCN, Focal Dermal Hypoplasia, Pentalogy of Cantrell, stomatognathic diseases, Mutation, Genetics, medicine, Humans, Female, Diaphragmatic hernia, business, Genetics (clinical), Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dccf343dcae42e034a40896400a8d9b8Test
https://doi.org/10.1002/ajmg.a.33895Test

المؤلفون: Marek Sasiadek, Ewa Barg, Elzbieta Szpich, Maria M. Sasiadek, Maja Gabrysz, Robert Smigiel

المصدر: Clinical dysmorphology. 21(3)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Cleft Lip, Short stature, Pathology and Forensic Medicine, Rare Diseases, Intellectual Disability, Congenital Hypothyroidism, Medicine, Humans, Abnormalities, Multiple, Girl, Genetics (clinical), media_common, Bone Diseases, Developmental, business.industry, Infant, General Medicine, Body Height, Cerebro-facio-thoracic dysplasia, Cleft Palate, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, Agenesis of Corpus Callosum, Psychomotor Disorders, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2832eb08b922d1e5e505d0dbe6b21e4eTest
https://pubmed.ncbi.nlm.nih.gov/22555342Test