المؤلفون: Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 10 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1796
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1796
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1796

المؤلفون: Jaouadi, Hager, Ben Chehida, Amel, Kraoua, Lilia, Etchevers, Heather, Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Neji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane

المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital La Rabta Tunis, Université de Tunis El Manar (UTM), Hôpital Charles Nicolle Tunis, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital militaire de Tunis, Military Hospital of Tunis, Laboratoire des Venins et Toxines, Institut Pasteur de Tunis, Institut Pasteur de Tunis, The project leading to this publication has received funding from the Excellence Initiative of Aix-Marseille University – A*MIDEX, a French ‘Investissements d'Avenir’ programme (RARE-MED project)., The authors would like to thank the family for their collaboration. This work was supported by the Tunisian Ministry of Public Health, the Ministry of Higher Education and Scientific Research (LR16IPT05)., ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011)

المصدر: ISSN: 0016-6723.

مصطلحات موضوعية: RAF1 mutation, whole exome sequencing, hypertrophic cardiomyopathy, Noonan syndrome, RAS/MAPK pathway, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis

Relation: info:eu-repo/semantics/altIdentifier/pmid/31030682; hal-02461305; https://amu.hal.science/hal-02461305; https://amu.hal.science/hal-02461305/document; https://amu.hal.science/hal-02461305/file/severe_clinical_phenotype_of_noonan_syndrome_with_neonatal_hypertrophic_cardiomyopathy_in_the_second_case_worldwide_with_raf1_s259y_neomutation.pdf; PUBMED: 31030682

الاتاحة: https://amu.hal.science/hal-02461305
https://amu.hal.science/hal-02461305/document
https://amu.hal.science/hal-02461305/file/severe_clinical_phenotype_of_noonan_syndrome_with_neonatal_hypertrophic_cardiomyopathy_in_the_second_case_worldwide_with_raf1_s259y_neomutation.pdf
https://doi.org/10.1017/S0016672319000041

المؤلفون: Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 10 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1837
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1837