المؤلفون: Aude Anquetil, Suonavy Khung Savatovsky, Laurent Gavard, Anne Bazin, Fabien Guimiot, Christele Dubourg, Laurent Mandelbrot, Olivier Picone

المصدر: Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: BRCA2, Fanconi anemia, Genetics, Genetic counseling, Polymalformative symdrome, Prenatal diagnosis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/26d3bc4e5edd411483e3a0a440cf35f7Test

المؤلفون: Christelle Jost, Bénedicte Breton, Valérie Biran, Suonavy Khung, Sarah Chekroune, Stéphane Bonacorsi

المصدر: New Microbes and New Infections, Vol 3, Iss C, Pp 1-3 (2015)

مصطلحات موضوعية: Aerococcus urinae, pregnancy, bacteraemia, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2052297514000110Test; https://doaj.org/toc/2052-2975Test

الوصول الحر: https://doaj.org/article/17aba2efd69545adbf1e7a16cf8e2ae2Test

المؤلفون: Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier

المصدر: PLoS Genetics, Vol 12, Iss 3, p e1005894 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4788435?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/80b9228e4b7a4d9cafbccaa2a58ded5cTest

المؤلفون: Ludovic Legros, Homa Adle-Biassette, Blandine Dozières-Puyravel, Suonavy Khung, Monique Elmaleh-Bergès, Gaëtan Lesca, Catherine Delanoë, Valérie Biran, Stéphane Auvin

المصدر: Seizure. 99

مصطلحات موضوعية: Brain Diseases, Epilepsy, Phenotype, Neurology, Mutation, Infant, Newborn, Humans, KCNQ2 Potassium Channel, Epilepsy, Generalized, Neurology (clinical), General Medicine, Infant, Newborn, Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1d8cacfa6645f2d55e0a6bedf1a494Test
https://pubmed.ncbi.nlm.nih.gov/35584591Test

المؤلفون: Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta

المصدر: JOURNAL OF MEDICAL GENETICS

مصطلحات موضوعية: musculoskeletal diseases, Artrogriposi múltiple congènita, Settore BIO/18 - GENETICA, human genetics, neuromuscular diseases, Genomics, Biology, CONTRACTURES, CLASSIFICATION, diseases, symbols.namesake, Diagnòstic, Gene mapping, arthrogryposis multiplex congenita, Exome Sequencing, OF-FUNCTION MUTATIONS, Genetics, Medicine and Health Sciences, genomics, Humans, Genetics (clinical), Exome sequencing, Arthrogryposis, Sanger sequencing, Arthrogryposis multiplex congenita, Genetic heterogeneity, SPINAL MUSCULAR-ATROPHY, Proteins, nervous system malformations, DYSTROPHY, Disease gene identification, GENE, Human genetics, Pedigree, ETIOLOGY, Phenotype, symbols, neuromuscular, Genètica, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7Test
https://hdl.handle.net/1854/LU-8759575Test

المؤلفون: Emmanuel Spaggiari, Sarah Taconet, Sophie Dreux, Bichr Allaf, Jonathan Rosenblatt, Fabien Guimiot, Suonavy Khung-Savatovsky, Magali Pettazzoni

المصدر: Prenatal Diagnosis. 40:605-611

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Amniotic fluid, Metabolite, Prenatal diagnosis, Vacuole, Sensitivity and Specificity, Vacuolated Lymphocytes, chemistry.chemical_compound, Mucolipidoses, Pregnancy, Prenatal Diagnosis, Ascitic Fluid, Humans, Medicine, Lymphocytes, Genetics (clinical), Fetus, Gangliosidosis, GM1, business.industry, Mucopolysaccharidosis VII, Sialic Acid Storage Disease, Ascites, Obstetrics and Gynecology, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases, Pleural Effusion, chemistry, Effusion, Vacuoles, Gestation, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2846cfd41b2e50be805e8d751220af5Test
https://doi.org/10.1002/pd.5657Test

المؤلفون: Aude-Marie Lepagnol-Bestel, Agnes Zvara, Gilles Maussion, Frédérique Quignon, Bedel Ngimbous, Nicolas Ramoz, Sandrine Imbeaud, Yann Loe-Mie, Karim Benihoud, Nicolas Agier, Paul A Salin, Ana Cardona, Suonavy Khung-Savatovsky, Pekka Kallunki, Jean-Maurice Delabar, Laszlo G Puskas, Hervé Delacroix, Lawrence Aggerbeck, Anne-Lise Delezoide, Olivier Delattre, Philip Gorwood, Jean-Marie Moalic, Michel Simonneau

المصدر: Human Molecular Genetics. 31:2106-2107

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::90993248733f8dd7cd43ef63a830b23eTest
https://doi.org/10.1093/hmg/ddab346Test

المؤلفون: Suonavy Khung-Savatovsky, Federico Prefumo, Fabien Guimiot, Gabriele Tonni, Mathilde Lefebvre, Paola Bonasoni, Anna Fichera, Jonathan Rosenblatt, Edward Araujo Júnior, Paolo Zampriolo, Gianpaolo Grisolia

المصدر: Fetal and Pediatric Pathology. 37:433-447

مصطلحات موضوعية: Laser surgery, Cristal and Realistic Vue, fetal pathology, fetoscopic laser photocoagulation, monochorionic/monoamiotic twins, TRAP sequence, Female, Fetofetal Transfusion, Fetoscopy, Humans, Laser Coagulation, Laser Therapy, Pregnancy, Twins, Monozygotic, medicine.medical_treatment, Twins, Umbilical cord, Monozygotic, Pathology and Forensic Medicine, Trap (computing), 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, 030219 obstetrics & reproductive medicine, business.industry, Interstitial laser, General Medicine, Ablation, medicine.anatomical_structure, Acardiac twin, Pediatrics, Perinatology and Child Health, TRAP Sequence, business, Nuclear medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895e66cd7b0751b1d32532ca6dc8813dTest
https://doi.org/10.1080/15513815.2018.1526240Test

المؤلفون: Perrine Pennamen, Caroline Rooryck, Yves Sznajer, Anne-Karin Kahlert, Isolina Riaño-Galán, Denny Schanze, David J. Amor, Eva Bermejo-Sánchez, Maie Walsh, Ariana Kariminejad, Siavash Ghaderi-Sohi, Mohamad Hasan Kariminejad, Ian P Hayes, Sönke Weinert, Patrick J. Morrison, Patrick Shannon, Martin Zenker, Gemma Poke, Annick Toutain, Suonavy Khung‐Savatovsky, Heinrich Sticht, David Chitayat, Fatima Abdelfattah, Evren Gumus, Marie-Laure Vuillaume, Katherine D. Mathews, Sabine Weidensee, Luisa Weiß, Benjamin W. Darbro

المساهمون: German Federal Ministry of Education and Research, Instituto de Salud Carlos III, Fundación 1000 sobre Defectos Congénitos

المصدر: Scopus
RUO: Repositorio Institucional de la Universidad de Oviedo
Universidad de Oviedo (UNIOVI)
Repisalud
Instituto de Salud Carlos III (ISCIII)
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Abdelfattah, F, Kariminejad, A, Kahlert, AK, Morrison, P J, Gumus, E, Mathews, K D, Darbro, B W, Amor, D J, Walsh, M, Sznajer, Y, Weiß, L, Weidensee, S, Chitayat, D, Shannon, P, Bermejo-Sánchez, E, Riaño-Galán, I, Hayes, I, Poke, G, Rooryck, C, Pennamen, P, Khung-Savatovsky, S, Toutain, A, Vuillaume, ML, Ghaderi-Sohi, S, Kariminejad, M H, Weinert, S, Sticht, H, Zenker, M & Schanze, D 2020, ' Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders ', Human Mutation, vol. 41, no. 9, pp. 1615-1628 . https://doi.org/10.1002/humu.24067Test

مصطلحات موضوعية: Male, Neu–Laxova syndrome, Mutant, Autosomal recessive, Limb Deformities, Congenital, Biology, medicine.disease_cause, Serine, 03 medical and health sciences, Fetus, Genotype, Genetics, medicine, Neu-Laxova syndrome, Humans, Abnormalities, Multiple, Phosphoglycerate dehydrogenase, Gene, PHGDH, Genetics (clinical), Genetic Association Studies, Phosphoglycerate Dehydrogenase, Transaminases, 030304 developmental biology, 0303 health sciences, Mutation, Brain Diseases, Fetal Growth Retardation, Genotype–phenotype correlation, 030305 genetics & heredity, Infant, Newborn, L-Serine biosynthesis, Ichthyosis, medicine.disease, Phenotype, PSAT1, Microcephaly, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f22ec2fbb76abc39815ae8a6717c53dTest
https://pubmed.ncbi.nlm.nih.gov/32579715Test

المؤلفون: Sowmyalakshmi Rasika, Jean-Louis Benifla, Anne-Lise Delezoide, Homa Adle-Biassette, Gabor G. Kovacs, Eleonora Aronica, Philippe Manivet, Sara Cipriani, Pierre Gressens, Catherine Verney, Jeannette Nardelli, Ivan Milenkovic, Suonavy Khung, Isidre Ferrer, Nicolas Deriot

المساهمون: Universitat de Barcelona

المصدر: Cipriani, S, Ferrer, I, Aronica, E, Kovacs, G G, Verney, C, Nardelli, J, Khung, S, Delezoide, A-L, Milenkovic, I, Rasika, S, Manivet, P, Benifla, J-L, Deriot, N, Gressens, P & Adle-Biassette, H 2018, ' Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults ', Cerebral cortex (New York, N.Y. : 1991) . https://doi.org/10.1093/cercor/bhy096Test
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Cognitive Neuroscience, Neurogenesis, Hipocamp (Cervell), Gestational Age, Nerve Tissue Proteins, Biology, Hippocampal formation, Hippocampus, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Fetus, Neural Stem Cells, Alzheimer Disease, medicine, Humans, Young adult, Child, Neurogenetics, Progenitor, Aged, Aged, 80 and over, Neurons, Dentate gyrus, Age Factors, Infant, Newborn, Infant, Nestin, Middle Aged, Alzheimer's disease, medicine.disease, Neural stem cell, 030104 developmental biology, Ki-67 Antigen, Malaltia d'Alzheimer, Child, Preschool, Female, Neurogenètica, Hippocampus (Brain), Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403c05b37f9d90eb8d629238b04b4cc7Test
https://kclpure.kcl.ac.uk/en/publications/b6c9cacc-f9fc-412b-af88-a8ca440faeffTest