Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Alkowari, Moza"'
Autor:
Abiib, Sumaya, Khodjet-El-khil, Houssein, El-Akouri, Karen, Bux, Reem Ibrahim, Rezoug, Zoulikha, Abualainin, Wafa, Alkowari, Moza, Musa, Sara Osman, Al Mulla, Mariam, Al Saleh, Rehab, Shahbeck, Noora, Farag, Maria, Ismail, Said I., Al Sulaiman, Reem, Ben-Omran, Tawfeg, Al-Thani, Asma, Al-Shafai, Mashael
Publikováno v:
In Genetics in Medicine Open July 2024
Autor:
Alkowari, Moza1 (AUTHOR) mespinoguarch@sidra.org, Espino-Guarch, Meritxell1 (AUTHOR) sdaas@sidra.org, Daas, Sahar1,2 (AUTHOR) dabdelrahman@sidra.org, Abdelrahman, Doua1 (AUTHOR) whasan@sidra.org, Hasan, Waseem1 (AUTHOR) nkrishnamoorthy2@sidra.org, Krishnamoorthy, Navaneethakrishnan1 (AUTHOR) asathappan@sidra.org, Sathappan, Abbirami1 (AUTHOR) nvanpanhuys@sidra.org, Sheehan, Patrick3 (AUTHOR) psheehan@sidra.org, Van Panhuys, Nicholas1 (AUTHOR) estivill@me.com, Estivill, Xavier1,4 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Mar2022, Vol. 23 Issue 6, p3369-3369. 14p.
Autor:
Mezzavilla, Massimo, Vozzi, Diego, Badii, Ramin, Alkowari, Moza Khalifa, Abdulhadi, Khalid, Girotto, Giorgia, Gasparini, Paolo
Publikováno v:
Human Heredity, 2015 Jan 01. 79(1), 14-19.
Externí odkaz:
https://www.jstor.org/stable/48513573
Autor:
Girotto, Giorgia, Mezzavilla, Massimo, Abdulhadi, Khalid, Vuckovic, Dragana, Vozzi, Diego, Alkowari, Moza Khalifa, Gasparini, Paolo, Badii, Ramin
Publikováno v:
Human Heredity, 2014 Jan 01. 77(1/4), 175-182.
Externí odkaz:
https://www.jstor.org/stable/48514274
Autor:
Alkowari, Moza K.1, Vozzi, Diego2, Bhagat, Shruti3, Krishnamoorthy, Navaneethakrishnan1,4, Morgan, Anna2,5, Hayder, Yousra6, Logendra, Barathy3, Najjar, Nehal6, Gandin, Ilaria2, Gasparini, Paolo2,5, Badii, Ramin3, Girotto, Giorgia2,5 giorgia.girotto@burlo.trieste.it, Abdulhadi, Khalid6
Publikováno v:
Mutation Research: Fundamental & Molecular Mechanisms of Mutagenesis. Aug2017, Vol. 800, p29-36. 8p.
Autor:
Zonta, Francesco, Girotto, Giorgia, Buratto, Damiano, Crispino, Giulia, Morgan, Anna, Abdulhadi, Khalid, Alkowari, Moza, Badii, Ramin, Gasparini, Paolo, Mammano, Fabio
Publikováno v:
Human Molecular Genetics; May2015, Vol. 24 Issue 9, p2641-2648, 8p
Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss.
Autor:
Girotto, Giorgia, Abdulhadi, Khalid, Buniello, Annalisa, Vozzi, Diego, Licastro, Danilo, d'Eustacchio, Angela, Vuckovic, Dragana, Alkowari, Moza Khalifa, Steel, Karen P., Badii, Ramin, Gasparini, Paolo
Publikováno v:
PLoS ONE; Dec2013, Vol. 8 Issue 12, p1-7, 7p
Autor:
Fabio Mammano, Ramin Badii, Francesco Zonta, Khalid Abdulhadi, Giulia Crispino, Moza Khalifa Alkowari, Damiano Buratto, Anna Morgan, Giorgia Girotto, Paolo Gasparini
Publikováno v:
Human Molecular Genetics
Human molecular genetics
24 (2015): 2641–2648. doi:10.1093/hmg/ddv026
info:cnr-pdr/source/autori:Zonta, Francesco; Girotto, Giorgia; Buratto, Damiano; Crispino, Giulia; Morgan, Anna; Abdulhadi, Khalid; Alkowari, Moza; Badii, Ramin; Gasparini, Paolo; Mammano, Fabio/titolo:The p.Cys169Tyr variant of connexin 26 is not a polymorphism/doi:10.1093%2Fhmg%2Fddv026/rivista:Human molecular genetics (Print)/anno:2015/pagina_da:2641/pagina_a:2648/intervallo_pagine:2641–2648/volume:24
Human molecular genetics
24 (2015): 2641–2648. doi:10.1093/hmg/ddv026
info:cnr-pdr/source/autori:Zonta, Francesco; Girotto, Giorgia; Buratto, Damiano; Crispino, Giulia; Morgan, Anna; Abdulhadi, Khalid; Alkowari, Moza; Badii, Ramin; Gasparini, Paolo; Mammano, Fabio/titolo:The p.Cys169Tyr variant of connexin 26 is not a polymorphism/doi:10.1093%2Fhmg%2Fddv026/rivista:Human molecular genetics (Print)/anno:2015/pagina_da:2641/pagina_a:2648/intervallo_pagine:2641–2648/volume:24
Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdf6ff72afb82378f6a7ddd64e6bbe23
https://doi.org/10.1093/hmg/ddv026
https://doi.org/10.1093/hmg/ddv026
Autor:
Giorgia Girotto, Navaneethakrishnan Krishnamoorthy, Ilaria Gandin, Shruti Bhagat, Yousra Hayder, Ramin Badii, Anna Morgan, Diego Vozzi, Nehal Najjar, Khalid Abdulhadi, Paolo Gasparini, Moza Khalifa Alkowari, Barathy W. Logendra
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cbf255ddbf7f36030ea04f150f6791
http://hdl.handle.net/11368/2902618
http://hdl.handle.net/11368/2902618
Autor:
Massimo Mezzavilla, Moza Khalifa Alkowari, Diego Vozzi, Giorgia Girotto, Khalid Abdulhadi, Paolo Gasparini, Ramin Badii
OBJECTIVE: The aim of this study is to evaluate the fraction of putatively deleterious variants within genomic runs of homozygosity (ROH) regions in an inbred and selected cohort of Qatari individuals. METHODS: High-density SNP array analysis was per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bded79b81186482b06b2cbd9a9aacd78
http://hdl.handle.net/11577/3455544
http://hdl.handle.net/11577/3455544