المؤلفون: Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández-Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum

المساهمون: Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

المصدر: GENOME RESEARCH

مصطلحات موضوعية: Craniosynostose, Animal, Twist-Related Protein 1, Repressor Protein, TRANSLOCATION, Mice, Polydactyly, Phenotype, Gene Expression Regulation, Histone Deacetylase, Medicine and Health Sciences, Genetics, Genetics (clinical), Human, Nuclear Protein, TISSUE-SPECIFIC ENHANCERS

وصف الملف: application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3cb705b0bd5bf2ec9d1b137970f325
https://hdl.handle.net/11697/197389

المؤلفون: Berton, Quentin

المساهمون: Faculté de Médecine - Clermont-Auvergne (FM - UCA), Université Clermont Auvergne (UCA), Guillaume Coll

المصدر: Médecine humaine et pathologie. 2021

مصطلحات موضوعية: Ifabond, Cyanoacrylate, N-hexyl cyanoacrylate, Réossification, Défects osseux, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Craniosynostose non syndromique

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2885::856e2a1b1a18f3b674a2ef8fd27b8ab1
https://dumas.ccsd.cnrs.fr/dumas-03690652

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المؤلفون: Hiller, Stefan

المصدر: Chinesische Medizin / Chinese Medicine. December 2012 27(4):226-231

المؤلفون: Patrizia De Marco, Marco Pavanello, Michele Pinelli, Andrea Accogli, Marcello Scala, Valeria Capra, Annalaura Torella, Mariasavina Severino, Carlo Gandolfo, Vincenzo Nigro, Francesco Musacchia

المساهمون: Accogli, A., Scala, M., Pavanello, M., Severino, M., Gandolfo, C., De Marco, P., Musacchia, F., Torella, A., Pinelli, M., Nigro, V., Capra, V., Accogli, Andrea, Scala, Marcello, Pavanello, Marco, Severino, Mariasavina, Gandolfo, Carlo, De Marco, Patrizia, Musacchia, Francesco, Torella, Annalaura, Pinelli, Michele, Nigro, Vincenzo, Capra, Valeria

مصطلحات موضوعية: 0301 basic medicine, Embryology, Pathology, medicine.medical_specialty, Health, Toxicology and Mutagenesis, Tumor Necrosis Factor Receptor-Associated Peptides and Protein, 030105 genetics & heredity, Toxicology, Germline, Craniosynostosis, Craniosynostoses, 03 medical and health sciences, Neurodevelopmental disorder, Neurodevelopmental Disorder, RASopathie, medicine, Humans, Missense mutation, Craniofacial, Sinus pericranii, cranio-cervical junction anomaly, Craniosynostose, business.industry, Skull, Sinus Pericranii, Brain, medicine.disease, Phenotype, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, craniosynostosi, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, dysgyria, business, Developmental Biology, TRAF7, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dc337dbf3946fd87bcbd2f8d5f5b024
http://hdl.handle.net/11588/873448

المؤلفون: Rocío Fernández-Parra, M. Malvè, Luca Zilberstein, Pascaline Pey

المساهمون: Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), University of Saskatchewan [Saskatoon] (U of S), University of Bologna/Università di Bologna, École nationale vétérinaire - Alfort (ENVA), Centro de Investigación Biomédica en Red en Bioingeniería, Biomateriales y Nanomedicina (CIBER-BBN), CCSD, Accord Elsevier, Fernandez-Parra R., Pey P., Zilberstein L., Malve M., Universidad Pública de Navarra. Departamento de Ingeniería, Nafarroako Unibertsitate Publikoa. Ingeniaritza Saila

المصدر: The veterinary journal / Vet. J.
The veterinary journal / Vet. J., London : Balliere Tindall, 2019, 253, pp.105392-. ⟨10.1016/j.tvjl.2019.105392⟩
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
Academica-e: Repositorio Institucional de la Universidad Pública de Navarra
Universidad Pública de Navarra

مصطلحات موضوعية: Larynx, Male, 040301 veterinary sciences, Brachycephalic dog, [SDV]Life Sciences [q-bio], 0206 medical engineering, Airflow, Computerized tomography images, Brachycephalic dogs, 02 engineering and technology, Computational fluid dynamics, 0403 veterinary science, Craniosynostoses, Airway resistance, Dogs, Computational fluid dynamic, medicine, Dog, Pressure, Animals, Dog Diseases, Nose, Craniosynostose, Computerized tomography image, General Veterinary, Soft palate, business.industry, Animal, 04 agricultural and veterinary sciences, Anatomy, respiratory system, 020601 biomedical engineering, Pedigree, respiratory tract diseases, Airway Obstruction, [SDV] Life Sciences [q-bio], Skull, medicine.anatomical_structure, Breathing, Animal Science and Zoology, Female, Dog Disease, Palate, Soft, Airway, business, circulatory and respiratory physiology

وصف الملف: application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f24c1c331a0f619198cc9a9d0b91ce
https://hal.archives-ouvertes.fr/hal-03488944/file/S1090023319301273.pdf

المؤلفون: Cornille, Maxence

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Paris sciences et lettres, Laurence Legeai-Mallet

المصدر: Médecine humaine et pathologie. Université Paris sciences et lettres, 2019. Français. ⟨NNT : 2019PSLET051⟩

مصطلحات موضوعية: musculoskeletal diseases, Cerveau, Behavior, Craniosynostose, Crane, Crouzon, Fgfr3, Craniosynostosis, Skull, Comportement, Brain, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b43ac6f1cffa8738b35bc66f29a0b6e9
https://tel.archives-ouvertes.fr/tel-03510241/document

المؤلفون: Cornille, Maxence

المساهمون: STAR, ABES, 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 sciences et lettres, Laurence Legeai-Mallet

المصدر: Médecine humaine et pathologie. Université Paris sciences et lettres, 2019. Français. ⟨NNT : 2019PSLET051⟩

مصطلحات موضوعية: musculoskeletal diseases, Cerveau, Behavior, Craniosynostose, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Crane, Crouzon, Fgfr3, Craniosynostosis, Skull, Comportement, Brain, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1398::b43ac6f1cffa8738b35bc66f29a0b6e9
https://theses.hal.science/tel-03510241

المؤلفون: Margaret P. Adam, Avni Santani, Tara L. Wenger, Domenica Battaglia, Giovanni Sorge, Margaret Harr, Stefania Ricciardi, Livia Garavelli, Marcella Zollino, Donna M. McDonald-McGinn, Rebecca D. Ganetzky, Stefania Bigoni, Elaine H. Zackai, Guido Cocchi, Silvia Romano, Sarah S. Barnett, Matteo Della Monica, Angelo Selicorni, Giuseppe Marangi, Baris Malbora, Francesca Mari, Elizabeth J. Bhoj, Elena Andreucci, Salvatore Savasta

المساهمون: Wenger, Tara L, Harr, Margaret, Ricciardi, Stefania, Bhoj, Elizabeth, Santani, Avni, Adam, Margaret P., Barnett, Sarah S., Ganetzky, Rebecca, McDonald-McGinn, Donna M., Battaglia, Domenica, Bigoni, Stefania, Selicorni, Angelo, Sorge, Giovanni, Monica, Matteo Della, Mari, Francesca, Andreucci, Elena, Romano, Silvia, Cocchi, Guido, Savasta, Salvatore, Malbora, Bari, Marangi, Giuseppe, Garavelli, Livia, Zollino, Marcella, Zackai, Elaine H.

المصدر: American journal of medical genetics. Part A. (10)

مصطلحات موضوعية: Male, Pediatrics, Microcephaly, Choanal atresia, Settore MED/03 - GENETICA MEDICA, CHARGE syndrome, Intellectual disability, Mowat-Wilson syndrome, Agenesis of the corpus callosum, Child, Genetics (clinical), Coloboma, Medicine (all), Homeodomain Protein, Craniosynostosis, Minor malformations, Abnormalities, Multiple, Adult, CHARGE Syndrome, Child, Preschool, Craniosynostoses, Face, Facies, Female, Genetic Association Studies, Hirschsprung Disease, Homeodomain Proteins, Humans, Infant, Infant, Newborn, Intellectual Disability, Mutation, Repressor Proteins, Young Adult, Genetics, craniosynostosis, Minor malformation, Abnormalities, Multiple, Human, medicine.medical_specialty, Mowat–Wilson syndrome, Genetic Association Studie, Genetic, medicine, Preschool, Zinc Finger E-box Binding Homeobox 2, Craniosynostose, business.industry, Repressor Protein, Newborn, medicine.disease, Facie, minor malformations, business, Craniosynostosi

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508f5a345dd458d2fa127ea563b40cb9
https://pubmed.ncbi.nlm.nih.gov/26097173

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