Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Hadeel Alsharif"'
Autor:
Talal Algoufi, Firdous Abdulwahab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mohammed A. Aldahmesh, Fatimah Aljubran, Arif O. Khan, Haifa Alsedairy, Eissa Faqeih, Muneera J. Alshammari, Sateesh Maddirevula, Mais Hashem, Hadeel Alsharif, Salil A. Lachke, Niema Ibrahim, Nisha Patel, Ahmed Qudair, Dorota Monies, Deepti Anand, Mohammed Al-Owain
Publikováno v:
Human Genetics. 136:205-225
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c89f029f4826edd2bb190bc02c14ff
https://doi.org/10.1007/s00439-016-1747-6
https://doi.org/10.1007/s00439-016-1747-6
Publikováno v:
Ophthalmic Genetics. 36:58-63
To uncover the homozygous recessive gene mutation underlying familial lens subluxation and/or juvenile lens opacities in four sisters from a consanguineous family.Prospective family study (clinical phenotyping; homozygosity-analysis-guided candidate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ddf87ebe35febb2e46a54314fc57bf
https://doi.org/10.3109/13816810.2014.985847
https://doi.org/10.3109/13816810.2014.985847
Autor:
Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya
Bar graph showing the percentage of the main features for each distinct ciliopathy syndrome. (PPTX 70 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::035c16d3c4c7907c2e8f76f6887c8ef1
Publikováno v:
Clinical Genetics. 92:230-231
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::964e4e3848c2a1a0402e2d6a998d598e
https://doi.org/10.1111/cge.12963
https://doi.org/10.1111/cge.12963
Autor:
Ali Alasmari, Bandar Al-Saud, Yong Xiong, Emad B. Abboud, Banan Al-Younes, Abeer Al-Mostafa, Ranad Shaheen, Abdulelah AlIssa, Ewa A. Naim, Mohammed A. Aldahmesh, Dorota Monies, Olga Buzovetsky, Niema Ibrahim, Mohamed Abouelhoda, Nada Al-Tassan, Ghada M H Abdel-Salam, Saleh Al-mohsen, Hisham Alkuraya, Hadeel Alsharif, Mohammed Al-Owain, Arif O. Khan, Asma Sunker, Mais Hashem, Sawsan R. Nowilaty, Selwa A.F. Al-Hazzaa, Firdous Abdulwahab, Shamsa Anazi, Hamad Al-Zaidan, Nisha Patel, Fowzan S. Alkuraya
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(6)
Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that are usually progressive in nature. The aim of this study was to clinically and molecularly characterize a large cohort of RD patients. We have developed a next-generat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46369cd13a60ce989ac6d1806e07cd4c
https://pubmed.ncbi.nlm.nih.gov/26355662
https://pubmed.ncbi.nlm.nih.gov/26355662
Autor:
Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya
Checklist used to cover all previously reported ciliopathy features. (DOCX 36 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15408412a47895a940dd1cd8f155f5fb
Autor:
Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya
Supplemental clinical data: clinical details for the affected cases with mutations in novel candidate genes. (DOCX 35 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1822c924243142a6be4598bc94a072f
Autor:
Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya
Checklist used to cover all previously reported ciliopathy features. (DOCX 36 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::714b8356e58faef0e8870d1abb9a80ae
Autor:
Ranad Shaheen, Szymanska, Katarzyna, Basudha Basu, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Hashem, Amal Al, Derar, Nada, Hadeel Alsharif, Aldahmesh, Mohammed, Alazami, Anas, Hashem, Mais, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Alkuraya, Hisham, Alnemer, Maha, Tala, Saeed Al, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed, Neama Meriki, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa, Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare, Parry, David, Tassan, Nada Al, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Anason Halees, Johnson, Colin, Fowzan Alkuraya
Supplemental clinical data: clinical details for the affected cases with mutations in novel candidate genes. (DOCX 35 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::775f0f7fe53e2d8fe8501e8a206233b9