المؤلفون: Ihssane EL Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Laila Bouguenouch, Imane Samri, Mohammed Iraqui Houssaïni, Karim Ouldim, Samir Atmani

المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Tetralogy of Fallot (TOF), NKX2.5, R25C mutation, Genetic screening, Moroccan population, Mutation rate, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/2fc64bb9841f4df88cb233028ea67f7d

المؤلفون: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Khadija Belhassan, Imane Samri, Amal Chaouti, Mohammed Iraqui Houssaïni, Samir Atmani, Karim Ouldim

المصدر: Eurasian Journal of Medicine, Vol 52, Iss 3, Pp 283-287 (2020)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://eajm.org/en/absence-of-gata4-mutations-in-moroccan-patients-with-atrial-septal-defect-asd-provides-further-evidence-of-limited-involvement-of-gata4-in-major-congenital-heart-defects-133296; https://doaj.org/toc/1308-8742

URL الوصول: https://doaj.org/article/da99d1801555428da40fb2a3cb55bd72

المؤلفون: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani, Karim Ouldim

المصدر: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Noonan syndrome (NS), PTPN11 mutations, Pathogenic effect prediction, Mutation rate, Consanguinity, Paternal age, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s43042-020-0047-9; https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/8c81a1981aa24cda858da711a34b2f71

المؤلفون: Zineb Aoullay, Andrew Smith, Meriem Slaoui, Ihssane El Bouchikhi, Hassan Ghazal, Najib Al Idrissi, Bouchra Meddah, Kara L. Lynch, Yahia Cherrah, Alan H.B. Wu

المصدر: Genetic Testing and Molecular Biomarkers. 27:133-141

مصطلحات موضوعية: General Medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b620145f6103b6e6932c56873eafe4a9
https://doi.org/10.1089/gtmb.2022.0109

المؤلفون: Imane Samri, Samir Atmani, Ihssane El Bouchikhi, Laila Bouguenouch, Moulay Abdelilah Melhouf, Karim Ouldim, Mohammed Iraqui Houssaini, Khadija Belhassan, Fatima Zohra Moufid, Fatima Abdouss

المصدر: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: 0301 basic medicine, Mutation rate, lcsh:QH426-470, Viral Oncogene, Consanguinity, 030105 genetics & heredity, Biology, 03 medical and health sciences, Paternal age, medicine, Advanced maternal age, Gene, Genetics (clinical), Genetics, PTPN11 mutations, lcsh:R5-920, Noonan syndrome (NS), medicine.disease, PTPN11, Pathogenic effect prediction, lcsh:Genetics, 030104 developmental biology, Cohort, Noonan syndrome, lcsh:Medicine (General)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b88eba69c8d4e00abdf99178944c6ea
http://link.springer.com/article/10.1186/s43042-020-0047-9

المؤلفون: Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura Cross, Dihong Zhou, Tomi Pastinen, Marc-Phillip Hitz, Hashim Abdul-Khaliq, Felix Berger, Ingo Dähnert, Sven Dittrich, Anselm Uebing, Brigitte Stiller, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina

المساهمون: Cardiology, ACS - Heart failure & arrhythmias, Medical Biology, ACS - Amsterdam Cardiovascular Sciences, Paediatric Cardiology, APH - Methodology, APH - Quality of Care, APH - Aging & Later Life, APH - Personalized Medicine, Human Genetics, APH - Amsterdam Public Health, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis

المصدر: Genetics in Medicine
Genetics in medicine, 23(10), 1952-1960. Lippincott Williams and Wilkins
Genetics in Medicine, 23(10), 1952-1960. SPRINGERNATURE
Škorić-Milosavljević, D, Lahrouchi, N, Bosada, FM, Dombrowsky, G, Williams, SG, Lesurf, R, Tjong, FVY, Walsh, R, El, B I, Breckpot, J, Audain, E, Bezzina, CR & Keavney, B 2021, ' Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01212-y

مصطلحات موضوعية: 0301 basic medicine, SIGNAL-TRANSDUCTION, 030204 cardiovascular system & hematology, Biology, Article, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, medicine, Missense mutation, Genetics (clinical), Exome sequencing, Tetralogy of Fallot, Genetics, Genetics & Heredity, Science & Technology, MUTATIONS, HEK 293 cells, Kinase insert domain receptor, DEFECTS, medicine.disease, Human genetics, CONGENITAL HEART-DISEASE, 030104 developmental biology, VASCULOGENESIS, cardiovascular system, Life Sciences & Biomedicine

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4afbca70db70b5fa002b2766fd74cae1
https://hdl.handle.net/1887/3238113

المؤلفون: Mohammed Iraqui Houssaini, Laila Bouguenouch, Karim Ouldim, Samir Atmani, Khadija Belhassan, Fatima Zohra Moufid, Ihssane El Bouchikhi, Imane Samri

المصدر: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Mutation rate, medicine.medical_specialty, lcsh:QH426-470, Offspring, Population, Ventricular Outflow Obstruction, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Right ventricular hypertrophy, Internal medicine, Genetic screening, medicine, Tetralogy of Fallot (TOF), cardiovascular diseases, education, NKX2.5, Genetics (clinical), Tetralogy of Fallot, lcsh:R5-920, education.field_of_study, business.industry, medicine.disease, Moroccan population, lcsh:Genetics, R25C mutation, 030104 developmental biology, Mutation (genetic algorithm), Cohort, cardiovascular system, Cardiology, lcsh:Medicine (General), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65d3db7032f998e9a8bd600aa1376d9e
https://doi.org/10.1186/s43042-021-00136-1

المؤلفون: Anuja Lipsa, Inaki Irastorza, Elif Yilmaz Gulec, Elżbieta Szmida, Robert Smigiel, Gisèle Bonne, Mireille COSSEE, Tirso Pons, Edward Wylęgała, Joanne Kotelawala, Cristian Pattaro, Ihssane El Bouchikhi, Anna Doraczynska-Kowalik, Filip Van Nieuwerburgh, Maria Sasiadek, Vasudha Mishra, Ryszard Ślęzak, Eugenio Ferro, Mariana Santos, Nadezda Shilova, Joanna Kozłowska, Nurhuda Mohamad Ansor

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: 0106 biological sciences, 0303 health sciences, Pediatrics, medicine.medical_specialty, Abstracts Collection, business.industry, medicine.disease, 010603 evolutionary biology, 01 natural sciences, Fabry disease, 03 medical and health sciences, Genetics, medicine, business, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afdb046a905c5efb2a5867e604e8624
https://doi.org/10.1038/s41431-019-0404-7

المؤلفون: Mohamed Iraqui Houssaini, Ihssane El Bouchikhi, Laila Bouguenouch, Karim Ouldim, Fatima Zahra Moufid

المصدر: The Turkish Journal of Gastroenterology. :701-704

مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, Case Report, Cecal Neoplasms, MLH1, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Gene duplication, medicine, Humans, Genetic Predisposition to Disease, Frameshift Mutation, Germ-Line Mutation, Genetics, business.industry, Gastroenterology, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Pedigree, Morocco, 030104 developmental biology, MSH2, 030220 oncology & carcinogenesis, Female, MutL Protein Homolog 1, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9644a12c4d54874a0ab4e1a10f6af875
https://doi.org/10.5152/tjg.2018.17761

المؤلفون: Said Trhanint, Laila Bouguenouch, Ihssane El bouchikhi, Mohamed Ahakoud, Sana Abourazzak, Hanan El ouahabi, Hanane Latrech, Karim Ouldim, Lahsen El Ghadraoui, Nadia Maazouzi

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bb827d991ddd7831bd21a0a3940abb