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1دورية أكاديمية
المؤلفون: Kraoua, Lilia, Louati, Assaad, Ahmed, Sarra Ben, Abida, Nesrine, Khemiri, Monia, Menif, Khaled, Mrad, Ridha, Zaffran, Stéphane, Jaouadi, Hager
المساهمون: Fondation Lefoulon Delalande
المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 6 ; ISSN 2324-9269 2324-9269
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2دورية أكاديمية
المؤلفون: Gouiza, Ismail, Hechmi, Meriem, Zioudi, Abir, Dallali, Hamza, Kheriji, Nadia, Charif, Majida, Le Mao, Morgane, Galai, Said, Kraoua, Lilia, Ben Youssef-Turki, Ilhem, Kraoua, Ichraf, Lenaers, Guy, Kefi, Rym
المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine
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3دورية أكاديمية
المؤلفون: Zaffran, Stéphane, Kraoua, Lilia, Jaouadi, Hager
المساهمون: 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 Charles Nicolle Tunis
المصدر: ISSN: 1661-6596.
مصطلحات موضوعية: catecholaminergic polymorphic ventricular tachycardia, excitation-contraction coupling, hypertrophic cardiomyopathy, calcium mishandling, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36834774; hal-04004374; https://amu.hal.science/hal-04004374Test; https://amu.hal.science/hal-04004374/documentTest; https://amu.hal.science/hal-04004374/file/ijms-24-03365.pdfTest; PUBMED: 36834774; PUBMEDCENTRAL: PMC9963263
الإتاحة: https://doi.org/10.3390/ijms24043365Test
https://amu.hal.science/hal-04004374Test
https://amu.hal.science/hal-04004374/documentTest
https://amu.hal.science/hal-04004374/file/ijms-24-03365.pdfTest -
4دورية أكاديمية
المؤلفون: AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Al-Sagheir, Afaf I., Mansour, Ahmad M., Alawaji, Ali, Aldhilan, Amal, Alhashem, Amal, Alhemidan, Amal, Nabil, Amira, Khan, Arif O., Aljohar, Aziza, Alsaleem, Badr, Tabarki, Brahim, Lourenco, Charles Marques, Faqeih, Eissa, AlShail, Essam, Almesaifri, Fatima, Mutairi, Fuad Al, Alzaidan, Hamad, Morsy, Heba, Alshihry, Hind, Alkuraya, Hisham, Girisha, Katta Mohan, Al-Fayez, Khawla, Al-Rubeaan, Khalid, kraoua, Lilia, Alnemer, Maha, Tulbah, Maha, Zaki, Maha S., Alfadhel, Majid, Abouelhoda, Mohammed, Nezarati, Marjan M., Al-Qattan, Mohammad, Shboul, Mohammad, Abanemai, Mohammed, Al-Muhaizea, Mohammad A., Al-owain, Mohammed
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-023-40909-3Test
https://www.nature.com/articles/s41467-023-40909-3.pdfTest
https://www.nature.com/articles/s41467-023-40909-3Test -
5دورية أكاديمية
المؤلفون: Kraoua, Lilia, Jaouadi, Hager, Allouche, Mohamed, Achour, Ahlem, Kaouther, Hakim, Ahmed, Habib Ben, Chaker, Lilia, Maazoul, Faouzi, Ouarda, Fatma, Zaffran, Stéphane, M'rad, Ridha
المصدر: Molecular Genetics & Genomic Medicine ; volume 10, issue 7 ; ISSN 2324-9269 2324-9269
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6دورية أكاديمية
المؤلفون: Jaouadi, Hager, Bouyacoub, Yosra, Chabrak, Sonia, Kraoua, Lilia, Zaroui, Amira, Elouej, Sahar, Nagara, Majdi, Dallali, Hamza, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mechmeche, Rachid, Zaffran, Stéphane, Abdelhak, Sonia
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), Laboratoire des Venins et Biomolécules Thérapeutiques - Laboratory of Venoms and Therapeutic Biomolecules (LR11IPT08), Institut Pasteur de Tunis, This work was supported by the Tunisian Ministry of Public Health, the Ministry of Higher Education and Scientific Research (LR16IPT05) and Excellence Initiative of Aix-Marseille University—A*MIDEX, a French “Investissements d’Avenir” programme (RARE-MED project).
المصدر: ISSN: 0340-9937.
مصطلحات موضوعية: Kopienzahlvariation, Oligogene Vererbung, Kalziumhaushalt, Unerklärbarer plötzlicher Herztod, TECRL-Gen, CNV, Oligogenic inheritance, Calcium handling, Sudden unexplained cardiac death, TECRL gene, MESH: Death, Sudden, Cardiac, MESH: Heart, MESH: Humans, MESH: Mutation, MESH: Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31970460; hal-02965635; https://amu.hal.science/hal-02965635Test; https://amu.hal.science/hal-02965635/documentTest; https://amu.hal.science/hal-02965635/file/Hager%20et%20al.pdfTest; PUBMED: 31970460
الإتاحة: https://doi.org/10.1007/s00059-019-04883-1Test
https://amu.hal.science/hal-02965635Test
https://amu.hal.science/hal-02965635/documentTest
https://amu.hal.science/hal-02965635/file/Hager%20et%20al.pdfTest -
7دورية أكاديمية
المؤلفون: Essaddam, Leila, Zitouni, Ons, Kraoua, Lilia, Trabelsi, Madiha, Sassi, Hella, Kmiha, Sana, Charfi, Fatma, El Guiche, Dorra, Kebaïli, Raoudha, Jaballah, Nesrine, Rjeb, Maroua, Zouari, Noura, El Aribi, Yasmina, Hizem, Syrine, Wannes, Salmen, Fkih Romdhane, Ibtihel, Sfar, Mohamed Tahar, Ben Hamouda, Hechmi, Hadj Salem, Radhia, Khlayfia, Zied, Khmiss, Tarek, Monastiri, Kamel, Siala, Nadia, Chouchane, Slaheddine, Souaa, Habib, Khochtali, Inès, Mahjoub, Bahri, Sfar, Habib, Ben Jemâa, Lamia, Abroug, Saoussen, Boughamoura, Lamia, Kamoun, Inès, Kamoun, Thouraya, Mrad, Ridha, Ben Becher, Saayda
المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 0, issue 0 ; ISSN 0334-018X 2191-0251
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8دورية أكاديمية
المؤلفون: Ben, Yahia Salwa, Belil, Hela, Maazoul, Faouzi, Mrad, Ridha, Kraoua, Lilia
المصدر: Endocrine Abstracts ; ISSN 1479-6848
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1530/endoabs.90.ep1159Test
http://www.endocrine-abstracts.org/ea/0090/ea0090EP1159.htmTest -
9دورية أكاديمية
المؤلفون: Ben, Yahia Salwa, Kraoua, Lilia, Belil, Hela, Maazoul, Faouzi, Mrad, Ridha
المصدر: Endocrine Abstracts ; ISSN 1479-6848
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1530/endoabs.90.ep924Test
http://www.endocrine-abstracts.org/ea/0090/ea0090EP924.htmTest -
10دورية أكاديمية
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
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31030682; hal-02461305; https://amu.hal.science/hal-02461305Test; https://amu.hal.science/hal-02461305/documentTest; 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.pdfTest; PUBMED: 31030682
الإتاحة: https://doi.org/10.1017/S0016672319000041Test
https://amu.hal.science/hal-02461305Test
https://amu.hal.science/hal-02461305/documentTest
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.pdfTest
