المؤلفون: Frédéric Brioude, Jérôme Bouligand, Bruno Francou, Jérôme Fagart, Ronan Roussel, Say Viengchareun, Laurent Combettes, Sylvie Brailly-Tabard, Marc Lombès, Jacques Young, Anne Guiochon-Mantel

المصدر: PLoS ONE, Vol 8, Iss 1, p e53896 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3548821?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/40b7198a37f6439d9dc1cd1d50c97c53Test

المؤلفون: Laurence Perrin, Marjolaine Willems, Sylvie Rossignol, Hélène Bony-Trifunovic, Cécile Brachet, Catherine Naud-Saudreau, Frédéric Brioude, Claire Sechter, Domitille Thomas, Walid Abi Habib, Georges Gelwane, Elise Brischoux-Boucher, Laurence Berard, Virginie Steunou, Claire Jeandel, Yves Le Bouc, Muriel Houang, Irène Netchine, Eloise Giabicani, Sandra Chantot-Bastaraud, Bertrand Isidor, Salah Azzi, James Lespinasse, Isabelle Guemas, Monique Jesuran-Perelroizen, Emmanuelle Caldagues, Pierre-François Souchon, Juliette Piard, Nathalie Thibaud, Marie-Laure Cuvelier, Bich Lam, Régis Coutant, Caroline Storey

المساهمون: Gestionnaire, Hal Sorbonne Université, Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), UF de Génétique chromosomique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], CHU Amiens-Picardie, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier de Calais, Hôpital Robert Debré Paris, Hôpital Robert Debré, Université Paris Diderot - Paris 7 (UPD7), Centre Hospitalier Métropole Savoie [Chambéry], CH Bretagne Sud, Association Française des Pédiatres Endocrinologues Libéraux (AFPEL), Centre Hospitalier Universitaire de Reims (CHU Reims), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP]

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2019-106328⟩

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Microcephaly, 030209 endocrinology & metabolism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Short stature, fetal growth restriction, 03 medical and health sciences, small for gestational age, 0302 clinical medicine, Growth factor receptor, Western blot, IGF1R, Internal medicine, Genetics, medicine, Genetics (clinical), Insulin-like growth factor 1 receptor, medicine.diagnostic_test, business.industry, homozygous variant, medicine.disease, Phenotype, IGF-I, body regions, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cohort, Small for gestational age, medicine.symptom, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ee6d49255a92d9a87bc5b4b19c1735Test
https://hal.sorbonne-universite.fr/hal-02435128Test

المؤلفون: Merih Berberoğlu, Régis Coutant, Şenay Savaş Erdeve, Cécile Brachet, Caroline Thalassinos, Frédéric Brioude, Michel Polak, Erdal Kurnaz, Sabrina Belkacem, Claudine Heinrichs, Aude Soleyan, Zeynep Şıklar, Nathalie Collot, Philippe Chanson, Jean-Claude Carel, Zehra Aycan, Marie-Laure Sobrier, Serge Amselem, Géraldine Viot, Noureddine Kaffel, Stanislas Lyonnet, Philippe Duquesnoy, Eliane Khallouf, Marie Legendre, Enzo Cohen, Soumeya Fedala, Sophie Rose, Florence Dastot, Frédérique Gatelais

المساهمون: Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Lamine Debaghine [Alger, Algérie] (HLD), Centre Hospitalier Universitaire Bab El Oued [Alger, Algérie] (CHU Bab El Oued), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Hôtel-Dieu de France (HDF), Université Saint-Joseph de Beyrouth (USJ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpitaux Universitaires Paris Centre (CHU Paris Centre), Hôpital Robert Debré, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Universitaire des Enfants Reine Fabiola [Brussels, Belgium]. (HUERF), Complexe Médical Multidisciplinaire [Sfax, Tunisia] (C2M), Ankara University School of Medicine [Turkey], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Dupuis, Christine, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie des maladies génétiques d'expression pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Service de Génétique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpital Universitaire des Enfants Reine Fabiola, Université libre de Bruxelles (ULB), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Division of Paediatric Endocrinology, Dr Sami Ulus Woman Health, Children Research Hospital, Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Human Mutation
Human Mutation, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩
Human Mutation, Wiley, 2019, 40 (11), pp.2033-2043. ⟨10.1002/humu.23847⟩

مصطلحات موضوعية: Male, Receptors, Neuropeptide, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, MESH: Amino Acid Sequence, medicine.disease_cause, molecular epidemiology, MESH: Genotype, Exon, Receptors, Pituitary Hormone-Regulating Hormone, Cyclic AMP, IGHD, MESH: Human Growth Hormone, Missense mutation, MESH: DNA Mutational Analysis, Idiopathic Isolated Growth Hormone Deficiency, Genetics (clinical), genotype‐phenotype correlation, MESH: Cyclic AMP, MESH: Genetic Association Studies, Genetics, 0303 health sciences, Mutation, Human Growth Hormone, MESH: Receptors, Neuropeptide, 030305 genetics & heredity, MESH: Genetic Predisposition to Disease, MESH: Amino Acid Substitution, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], functional studies, Female, MESH: Mutation, Genotype, MESH: Pedigree, Genetic counseling, GHRHR, Biology, genotype-phenotype correlation, MESH: Dwarfism, Pituitary, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Dwarfism, Pituitary, Gene, Alleles, Genetic Association Studies, 030304 developmental biology, MESH: Humans, Molecular epidemiology, MESH: Receptors, Pituitary Hormone-Regulating Hormone, MESH: Alleles, MESH: Male, Amino Acid Substitution, MESH: Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::013fc4132e589725e8cbefc8344e1c72Test
https://www.hal.inserm.fr/inserm-03712902/documentTest

المؤلفون: Yves Le Bouc, Frédéric Brioude, Tony Yuen, Walid Abi Habib, James T. Bennett, Madeleine D. Harbison, Thomas Edouard, Jennifer Salem, Frédérique Tixier, Anne Lienhardt-Roussie, Salah Azzi, Irène Netchine

المساهمون: Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse], University of Washington [Seattle], CHU Limoges, Hôpital Debrousse, Hospices Civils de Lyon (HCL), Icahn School of Medicine at Mount Sinai [New York] (MSSM), HAL UPMC, Gestionnaire, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩
Genetics in Medicine, 2018, 20 (2), pp.250-258. ⟨10.1038/gim.2017.105⟩

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, medicine.disease_cause, Epigenesis, Genetic, fetal growth restriction, Genotype, Original Research Article, Growth Charts, Genetics (clinical), Genetics, Regulation of gene expression, Mutation, Fetal Growth Retardation, biology, IGF2, Gene Expression Regulation, Developmental, [SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Pedigree, 3. Good health, DNA-Binding Proteins, Female, Signal Transduction, HMGA2, Genetic counseling, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Models, Biological, Cell Line, Silver–Russell syndrome, 03 medical and health sciences, Insulin-Like Growth Factor II, medicine, Humans, Genetic Predisposition to Disease, Epigenetics, Genetic Association Studies, PLAG1, Whole Genome Sequencing, HMGA2 Protein, Facies, Genetic Variation, medicine.disease, Silver-Russell Syndrome, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9450df7f9884338d7e075047b83c027Test
https://doi.org/10.1038/gim.2017.105Test

المؤلفون: Frédéric Brioude

المصدر: Annales d'Endocrinologie. 82:230

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::82db0b8ffde10a45b233f8f2282327b7Test
https://doi.org/10.1016/j.ando.2021.07.037Test

المؤلفون: Tania Attié-Bitach, Pierre-Simon Jouk, Frédéric Brioude, Judith Melki, Sophie Julia, Abdelaziz Sefiani, Sophie Naudion, Stephen Stamm, Jennifer Fabre-Teste, Christine Francannet, Sébastien Mur, Muriel Holder-Espinasse, Nicole Revencu, Tiffany Busa, Marine Legendre, Alain Kitzis, Stanislas Lyonnet, Jeanne Amiel, Frédéric Bilan, Patricia Blanchet, Yassamine Doubaj, Massimiliano Rossi, Brigitte Gilbert-Dussardier, Marie-Ange Delrue, Montserrat Rodríguez-Ballesteros, Véronique Abadie

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

المصدر: European Journal of Human Genetics, Vol. 26, no. 2, p. 287-292 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Sequence analysis, In silico, Computational biology, Biology, Real-Time Polymerase Chain Reaction, Brief Communication, 03 medical and health sciences, CHARGE syndrome, 0302 clinical medicine, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), DNA Helicases, Genetic disorder, Computational Biology, Sequence Analysis, DNA, medicine.disease, DNA-Binding Proteins, RNA Splice Sites, 030104 developmental biology, Chd7 gene, Mutation, RNA splicing, CHARGE Syndrome, 030217 neurology & neurosurgery, Minigene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c2a5056427b4862b6cb6c4ff53a9b0Test
https://doi.org/10.1038/s41431-017-0007-0Test

المؤلفون: Lidia Larizza, Giovanni Battista Ferrero, Raoul C.M. Hennekam, Silvia Russo, Angelo Selicorni, Leslie G. Biesecker, Jennifer M. Kalish, Frédéric Brioude, Peter N. Robinson, Matthew A. Deardorff, Alessandra Di Cesare-Merlone, Alessandro Mussa, Pablo Lapunzina, Todd E. Druley, Marina Macchiaiolo, Saskia M. Maas, Eamonn R. Maher, Silvia Maitz, Julian A. Martinez-Agosto

المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, ANS - Complex Trait Genetics, Human Genetics, APH - Quality of Care, Paediatric Genetics

المصدر: American journal of medical genetics. Part A, 173(7), 1735-1738. Wiley-Liss Inc.
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Beckwith–Wiedemann syndrome, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, isolated lateralized overgrowth, Genetics, medicine, Nomenclature, Hemihypertrophy, Genetics (clinical), lateralized overgrowth, Genetic heterogeneity, business.industry, isolated unilateral overgrowth, isolated hemihypertrophy, isolated hemihyperplasia, segmental overgrowth, respiratory system, medicine.disease, respiratory tract diseases, Beckwith-Wiedemann syndrome, Isolated hemihyperplasia, Isolated hemihypertrophy, Isolated lateralized overgrowth, Isolated unilateral overgrowth, Lateralized overgrowth, Segmental overgrowth, 030104 developmental biology, Endocrinology, Dysplasia, Etiology, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2dcc8262747befda6a502db04c4a38Test
https://doi.org/10.1002/ajmg.a.38266Test

المؤلفون: Claire Personnier, Sandra Chantot-Bastaraud, Walid Abi Habib, Cristina Das Neves, Jennifer Salem, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine, Frédéric Brioude, Boris Keren, Salah Azzi

المصدر: Human Mutation. 38:105-111

مصطلحات موضوعية: Male, 0301 basic medicine, Gene Expression, 030105 genetics & heredity, Biology, Genomic Imprinting, 03 medical and health sciences, Insulin-Like Growth Factor II, parasitic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Imprinting (psychology), Allele, Enhancer, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Fetus, Chromosomes, Human, Pair 11, Silver–Russell syndrome, Methylation, DNA Methylation, Fibroblasts, medicine.disease, female genital diseases and pregnancy complications, Pedigree, Silver-Russell Syndrome, Child, Preschool, Overgrowth syndrome, DNA methylation, Female, RNA, Long Noncoding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a9fdb86ef05e60fd983b98f7b23cfaTest
https://doi.org/10.1002/humu.23131Test

المؤلفون: Eloïse, Giabicani, Marjolaine, Willems, Virginie, Steunou, Sandra, Chantot-Bastaraud, Nathalie, Thibaud, Walid, Abi Habib, Salah, Azzi, Bich, Lam, Laurence, Bérard, Hélène, Bony-Trifunovic, Cécile, Brachet, Elise, Brischoux-Boucher, Emmanuelle, Caldagues, Regis, Coutant, Marie-Laure, Cuvelier, Georges, Gelwane, Isabelle, Guemas, Muriel, Houang, Bertrand, Isidor, Claire, Jeandel, James, Lespinasse, Catherine, Naud-Saudreau, Monique, Jesuran-Perelroizen, Laurence, Perrin, Juliette, Piard, Claire, Sechter, Pierre-François, Souchon, Caroline, Storey, Domitille, Thomas, Yves, Le Bouc, Sylvie, Rossignol, Irène, Netchine, Frédéric, Brioude

المصدر: Journal of medical genetics. 57(3)

مصطلحات موضوعية: Male, Heterozygote, Fetal Growth Retardation, Adolescent, Homozygote, Mutation, Missense, Dwarfism, Receptors, Somatomedin, Polymorphism, Single Nucleotide, Pedigree, Receptor, IGF Type 1, Fetal Development, Insulin-Like Growth Factor II, Infant, Small for Gestational Age, Microcephaly, Humans, Abnormalities, Multiple, Female, Insulin-Like Growth Factor I, Child, Growth Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::884176ec4ad9bcfb4577ed8a72968606Test
https://pubmed.ncbi.nlm.nih.gov/31586944Test

المؤلفون: Luciano Calzari, Sara Guzzetti, Silvia Russo, Daniela Melis, Frédéric Brioude, Deborah J G Mackay, Jet Bliek, Maria Paola Lombardi, Karen Temple, Angelo Selicorni, Claudia Izzi, Eamonn R. Maher, Irène Netchine, Thomas Eggermann

المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), University of Southampton, University of Amsterdam [Amsterdam] (UvA), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Civic Hospital of Brescia, Università degli studi di Napoli Federico II, University of Cambridge [UK] (CAM), NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH)

المصدر: Genetical research, 101. Cambridge University Press
Genetics Research
Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩
Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X

مصطلحات موضوعية: Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Bioinformatics, Chromosomes, 03 medical and health sciences, parasitic diseases, Genetics, medicine, Short Paper, Humans, Genetic Predisposition to Disease, Genetic Testing, Imprinting (psychology), Medical diagnosis, Pair 11, 030304 developmental biology, Genetic testing, Beckwith wiedemann, 0303 health sciences, molecular testing, medicine.diagnostic_test, business.industry, Chromosomes, Human, Pair 11, Silver–Russell syndrome, 030305 genetics & heredity, General Medicine, DNA Methylation, medicine.disease, unexpected results, 3. Good health, Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Phenotype, Silver-Russell Syndrome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DNA methylation, Anxiety, medicine.symptom, business, Human

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e6e9691c2c46c1c6b65fa268d72665Test
https://pure.amc.nl/en/publications/discrepant-molecular-and-clinical-diagnoses-in-beckwithwiedemann-and-silverrussell-syndromesTest(fd6f1f5d-b912-4493-b624-1e227ebeea2c).html