المؤلفون: Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Dalla Bernardina, Bernardo, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, D'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo, Grp, Aicardi Syndrome Int Study

المصدر: Masnada , S , Pichiecchio , A , Formica , M , Arrigoni , F , Borrelli , P , Accorsi , P , Bonanni , P , Borgatti , R , Dalla Bernardina , B , Danieli , A , Darra , F , Deconinck , N , De Giorgis , V , Dulac , O , Gataullina , S , Giordano , L , Guerrini , R , La Briola , F , Mastrangelo , M , Montomoli , M , Mortilla , M , Osanni , E , Parisi , P , Perucca , E , ....

مصطلحات موضوعية: Adolescent, Adult, Aicardi Syndrome/diagnostic imaging, Basal Ganglia/abnormalities, Brain/abnormalities, Child, Preschool, Drinking, Drug Resistant Epilepsy/diagnostic imaging, Eating, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Motor Skills, Retina/diagnostic imaging, Retrospective Studies, Seizures/diagnostic imaging, Treatment Outcome, Young Adult

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/5215a820-3de7-4d32-bdc3-0dd192480d8fTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000011237Test
https://portal.findresearcher.sdu.dk/da/publications/5215a820-3de7-4d32-bdc3-0dd192480d8fTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055324/pdf/NEUROLOGY2019052274.pdfTest

المؤلفون: Ruault, Valentin, Corsini, Carole, Duflos, Claire, Akouete, Sandrine, Georgescu, Véra, Abaji, Mario, Alembick, Yves, Alix, Eudeline, Amiel, Jeanne, Amouroux, Cyril, Barat-Houari, Mouna, Baumann, Clarisse, Bonnard, Adeline, Boursier, Guilaine, Boute, Odile, Burglen, Lydie, Busa, Tiffany, Cordier, Marie-Pierre, Cormier-Daire, Valérie, Delrue, Marie-Ange, Doray, Bérénice, Faivre, Laurence, Fradin, Mélanie, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Goldenberg, Alice, Gorokhova, Svetlana, Héron, Delphine, Isidor, Bertrand, Jacquemont, Marie-Line, Jacquette, Aurélia, Jeandel, Claire, Lacombe, Didier, Le Merrer, Martine, Sang, Kim Hanh Le Quan, Lyonnet, Stanislas, Manouvrier, Sylvie, Michot, Caroline, Moncla, Anne, Moutton, Sébastien, Odent, Sylvie, Pelet, Anna, Philip, Nicole, Pinson, Lucile, Reversat, Julie, Roume, Joëlle, Sanchez, Elodie, Sanlaville, Damien, Sarda, Pierre, Schaefer, Elise, Till, Marianne, Touitou, Isabelle, Toutain, Annick, Willems, Marjolaine, Gatinois, Vincent, Geneviève, David

المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Département d'Information Médicale CHRU Montpellier, Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Diagnostic Génétique CHU Strasbourg, Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de Cytogénétique Constitutionnelle Hospices civils de Lyon, Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Robert Debré Paris, Hôpital Robert Debré, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Pellegrin, CHU Bordeaux-Groupe hospitalier Pellegrin, Hôpital d'Enfants CHU Dijon, Hôpital du Bocage, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -hôpital Sud, Service de Génétique Médicale CHU Poitiers, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Dpt génétique médicale CHU Nice, Centre Hospitalier Universitaire de Nice (CHU Nice), Service de Génétique CHU Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Pitié-Salpêtrière AP-HP, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôpital saint Pierre, GH Sud Réunion, Département Pédiatrie CHRU Montpellier, Pôle Femme Mère Enfant CHRU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), 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), Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS Poissy, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Département génétique méd, mal rares et médecine personnalisée CHRU de Montpellier, Pôle Biologie-Pathologie CHRU Montpellier

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: Kabuki syndrome, Growth, Growth hormone deficiency, Parental target size, Specific curves, MESH: Abnormalities, Multiple, MESH: Adolescent, MESH: Growth Charts, MESH: Hematologic Diseases, MESH: Histone Demethylases, MESH: Humans, MESH: Male, MESH: Mutation, MESH: Neoplasm Proteins, MESH: Vestibular Diseases, MESH: Body Height, MESH: Body Mass Index, MESH: Body Weight, MESH: Child, Preschool, MESH: DNA-Binding Proteins, MESH: Face, MESH: Female, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31876365; hal-03388687; https://hal.umontpellier.fr/hal-03388687Test; https://hal.umontpellier.fr/hal-03388687/documentTest; https://hal.umontpellier.fr/hal-03388687/file/Growth%20charts%20in%20Kabuki%20syndrome%201.pdfTest; PUBMED: 31876365

الإتاحة: https://doi.org/10.1002/ajmg.a.61462Test
https://hal.umontpellier.fr/hal-03388687Test
https://hal.umontpellier.fr/hal-03388687/documentTest
https://hal.umontpellier.fr/hal-03388687/file/Growth%20charts%20in%20Kabuki%20syndrome%201.pdfTest

المؤلفون: Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-yeboa, Kwame, Cerbone, Gaetana, Clayton-smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-politi, Anya, Stong, Nicholas, Strom, Tim M., Van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen

المصدر: Verheije , R , Kupchik , G S , Isidor , B , Kroes , H Y , Lynch , S A , Hawkes , L , Hempel , M , Gelb , B D , Ghoumid , J , D’amours , G , Chandler , K , Dubourg , C , Loddo , S , Tümer , Z , Shaw-smith , C , Nizon , M , Shevell , M , Van Hoof , E , Anyane-yeboa , K , Cerbone , G , Clayton-smith , J , Cogné , B , Corre , P , Corveleyn , ....

مصطلحات موضوعية: Adolescent, Child, Preschool, Cleft Palate/genetics, Female, Heart Defects, Congenital/genetics, Heterozygote, Homeodomain Proteins/genetics, Humans, Intellectual Disability/genetics, Loss of Function Mutation, Male, Phenotype, Syndrome, Transcription Factors/genetics, Young Adult

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1038/s41431-018-0281-5Test
https://research.manchester.ac.uk/en/publications/d12d5425-5340-4c1b-8282-ece2b529e457Test
https://pure.manchester.ac.uk/ws/files/82045697/manuscript_final_submission.docxTest
http://www.mendeley.com/research/heterozygous-lossoffunction-variants-meis2-cause-triad-palatal-defects-congenital-heart-defects-inte-1Test

المؤلفون: Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo

المساهمون: Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicola, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, Giovannastefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, D'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexi, Veggiotti, Pierangelo

مصطلحات موضوعية: Adolescent, Adult, Aicardi Syndrome, Basal Ganglia, Brain, Child, Preschool, Drinking, Drug Resistant Epilepsy, Eating, Electroencephalography, Female, Human, Infant, Magnetic Resonance Imaging, Motor Skill, Retina, Retrospective Studie, Seizure, Treatment Outcome, Young Adult

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33277420; info:eu-repo/semantics/altIdentifier/wos/WOS:000657054500016; volume:96; issue:9; firstpage:e1319; lastpage:e1333; numberofpages:15; journal:NEUROLOGY; http://hdl.handle.net/11564/742291Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102538218; https://n.neurology.org/content/96/9/e1319.longTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000011237Test
http://hdl.handle.net/11564/742291Test
https://n.neurology.org/content/96/9/e1319.longTest

المؤلفون: Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill

المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: European Journal of Human Genetics, Vol. 23, no. 9, p. 1165-1170 (2015)

مصطلحات موضوعية: Blepharophimosis, Female, Gene Expression, Genetic Association Studies, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Child, Preschool, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Severity of Illness Index, Urogenital Abnormalities, Congenital Hypothyroidism, Craniofacial Abnormalities, DNA Mutational Analysis, Diagnosis, Differential, Exome, Exons, Facies

العلاقة: boreal:175963; http://hdl.handle.net/2078.1/175963Test; info:pmid/25424711; urn:ISSN:1018-4813; urn:EISSN:1476-5438

الإتاحة: https://doi.org/10.1038/ejhg.2014.248Test
http://hdl.handle.net/2078.1/175963Test

المؤلفون: Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Dalla Bernardina, Bernardo, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, D'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo, Grp, Aicardi Syndrome Int Study

المصدر: Neurology
Masnada, S, Pichiecchio, A, Formica, M, Arrigoni, F, Borrelli, P, Accorsi, P, Bonanni, P, Borgatti, R, Dalla Bernardina, B, Danieli, A, Darra, F, Deconinck, N, De Giorgis, V, Dulac, O, Gataullina, S, Giordano, L, Guerrini, R, La Briola, F, Mastrangelo, M, Montomoli, M, Mortilla, M, Osanni, E, Parisi, P, Perucca, E, Pinelli, L, Romaniello, R, Severino, M, Vigevano, F, Vignoli, A, Bahi-Buisson, N, Cavallin, M, Accogli, A, Burgeois, M, Capra, V, Chaves-Vischer, V, Chiapparini, L, Colafati, G, D'Arrigo, S, Desguerre, I, Doco-Fenzy, M, D'Orsi, G, Epitashvili, N, Fazzi, E, Ferretti, A, Fiorini, E, Fradin, M, Fusco, C, Granata, T, Johannesen, K M, Lebon, S, Loget, P, Moller, R S, Montanaro, D, Orcesi, S, Quelin, C, Rebessi, E, Romeo, A, Solazzi, R, Spagnoli, C, Uebler, C, Zara, F, Arzimanoglou, A, Veggiotti, P & Grp, A S I S 2021, ' Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome ', Neurology, vol. 96, no. 9, pp. e1319-e1333 . https://doi.org/10.1212/WNL.0000000000011237Test

مصطلحات موضوعية: 0301 basic medicine, Drug Resistant Epilepsy, Basal Ganglia, Dysmorphism, Aicardi Syndrome, brain malformation, Aicardi Syndrome/diagnostic imaging, Electroencephalography, Corpus callosum, Epilepsy, Eating, 0302 clinical medicine, Basal ganglia, Child, medicine.diagnostic_test, Brain, Magnetic Resonance Imaging, Treatment Outcome, Motor Skills, Brain/abnormalities, Child, Preschool, Female, Radiology, Adult, medicine.medical_specialty, Adolescent, Seizures/diagnostic imaging, Drinking, Basal ganglia dysmorphism, Retina, Article, Aicardi syndrome, 03 medical and health sciences, Young Adult, Basal Ganglia/abnormalities, Neuroimaging, Seizures, medicine, Humans, Preschool, Drug Resistant Epilepsy/diagnostic imaging, Retrospective Studies, Infant, business.industry, Magnetic resonance imaging, Cortical dysplasia, medicine.disease, 030104 developmental biology, Retina/diagnostic imaging, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c93a062109ebf7072dcc9a86203a9ab3Test
https://pubmed.ncbi.nlm.nih.gov/33277420Test

المؤلفون: Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Genevieve, Schaefer, Elise, Judith, Saint-Onge, Bazin, Anne, Pinson, Lucile, Attie-Bitach, Tania, Baumann, Clarisse, Fradin, Melanie, PIERQUIN, Geneviève, Julia, Sophie, Quelin, Chloe, Doray, Berenice, Berg, Sylvie, Vincent-Delorme, Catherine, Lambert, Laetitia, Bachmann, Nadine, Lacombe, Didier, Isidor, Bertrand, Laurent, Nicole, Joelle, Roume, Blanchet, Patricia, Odent, Sylvie, Kervran, Dominique, Leporrier, Nathalie, Abel, Carine, SEGERS, Karin, Guiliano, Fabienne, Ginglinger-Fabre, Emmanuelle, Selicorni, Angelo, Goldenberg, Alice, El Chehadeh, Salima, Francannet, Christine, Demeer, Benedicte, Duffourd, Yannis, Thauvin-Robinet, Christel, Verloes, Alain, Cormier-Daire, Valerie, Riviere, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

المصدر: Journal of Medical Genetics, 55 (6), 422-429 (2018)

مصطلحات موضوعية: Adolescent, Basic Helix-Loop-Helix Transcription Factors/genetics, Bone Diseases, Developmental/genetics/physiopathology, Child, Preschool, Female, Glycosyltransferases/genetics, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Mutation, Pedigree, Phenotype, Spine/metabolism/pathology, T-Box Domain Proteins/genetics, Whole Exome Sequencing, diagnostic strategy, gene panel, segmentation defect of the vertebrae, spondylocostal dysostosis, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:0022-2593; urn:issn:1468-6244; https://orbi.uliege.be/handle/2268/242507Test; info:hdl:2268/242507; scopus-id:2-s2.0-85052570741; info:pmid:29459493

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-104939Test
https://orbi.uliege.be/handle/2268/242507Test

المؤلفون: Coutelier, Marie, Coarelli, Giulia, Monin, Marie-Lorraine, Konop, Juliette, Davoine, Claire-Sophie, Tesson, Christelle, Valter, Rémi, Anheim, Mathieu, Behin, Anthony, Castelnovo, Giovanni, Charles, Perrine, David, Albert, Ewenczyk, Claire, Fradin, Mélanie, Goizet, Cyril, Hannequin, Didier, Labauge, Pierre, Riant, Florence, Sarda, Pierre, Sznajer, Yves, Tison, François, Ullmann, Urielle, van Maldergem, Lionel, Mochel, Fanny, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra

المساهمون: 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), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Spatax

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Calcium Channels/*genetics, Cerebellar Ataxia/*genetics/*physiopathology, Channelopathies/*genetics/*physiopathology, Child, Preschool, Cohort Studies, Female, Genes, Dominant, Genotype, Humans, Male, Metalloendopeptidases/*genetics, Middle Aged, Phenotype, Young Adult, Cacna1a, Spg7, cerebellar ataxia, channelopathies, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03682262; https://hal.science/hal-03682262Test

الإتاحة: https://doi.org/10.1093/brain/awx081Test
https://hal.science/hal-03682262Test