檢索結果 - Nada Al Tassan

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  1. 1
    Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

    Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder 由 Jameela Shinwari, Arif O. Khan, Salma Awad, Zakia Shinwari, Ayodele Alaiya, Mohamad Alanazi, Asma I. Tahir, Coralie Poizat, Nada Al Tassan

    出版 2014
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  2. 2
    Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location

    Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location 由 Christopher Wills, Katie Watts, Amy Houseman, Tim Maughan, David I. Fisher, Nada Al Tassan, Richard S. Houlston, Valentina Escott‐Price, Jeremy P. Cheadle

    出版 2025
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  3. 3
    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

    Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden 由 Mohamed Abouelhoda, Turki M. Sobahy, Mohamed El-Kalioby, Nisha Patel, Hanan E. Shamseldin, Dorota Monies, Nada Al Tassan, Khushnooda Ramzan, Faiqa Imtiaz, Ranad Shaheen, Fowzan S. Alkuraya

    出版 2016
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  4. 4
    Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

    Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature 由 José Morales, Latifa Al-Sharif, Dania S. Khalil, Jameela Shinwari, Prashant Bavi, Rahima A. Al-Mahrouqi, Ali A. Al‐Rajhi, Fowzan S. Alkuraya, Brian F. Meyer, Nada Al Tassan

    出版 2009
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  5. 5
    A missense mutation in <i>PIK3R5</i> gene in a family with ataxia and oculomotor apraxia

    A missense mutation in <i>PIK3R5</i> gene in a family with ataxia and oculomotor apraxia 由 Nada Al Tassan, Dania S. Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher AlAhmed, Saeed Bohlega

    出版 2011
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  6. 6
    Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency

    Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency 由 Musa Alharbi, Nahla Ali Mobark, Latifa AlMubarak, Rasha Aljelaify, Mariam AlSaeed, Amal Almutairi, Fatmah Alqubaishi, Mushtaq Hussain, Ali Abdullah O Balbaid, Amal Said Marie, Lamia Alsubaie, Saeed Alshieban, Nada Al Tassan, Shakti Ramkissoon, Malak Abedalthagafi

    出版 2018
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  7. 7
    Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

    Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes 由 Flávia A. Costa‐Barbosa, Ravikumar Balasubramanian, Kimberly W. Keefe, Natalie D. Shaw, Nada Al Tassan, Lacey Plummer, Andrew Dwyer, Cassandra Buck, Jin‐Ho Choi, Stephanie B. Seminara, Richard Quinton, Dorota Monies, Brian F. Meyer, Janet E. Hall, Nelly Pitteloud, William F. Crowley

    出版 2013
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  8. 8
    Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

    Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q 由 H. Lamlum, Nada Al Tassan, E Jaeger, Ian M. Frayling, Oliver M. Sieber, Faisal Reza, Michaela Eckert, Andrew Rowan, Ella Barclay, Wendy Atkin, Christopher J.M. Williams, J.R. Gilbert, Jeremy P. Cheadle, Jennifer Bell, Richard S. Houlston, Walter F. Bodmer, Jone E. Sampson, Ian Tomlinson

    出版 2000
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  9. 9
    Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

    Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families 由 Bashayer Al‐Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham Aldhalaan, Mohammed S. Al‐Dosari, Michael Nester, Hussain Al-Shamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma I. Tahir, Sultana M. Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan

    出版 2017
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  10. 10
    Functionally compromised <i>CHD7</i> alleles in patients with isolated GnRH deficiency

    Functionally compromised <i>CHD7</i> alleles in patients with isolated GnRH deficiency 由 Ravikumar Balasubramanian, Jin‐Ho Choi, Ludmila Francescatto, Jason R. Willer, Edward R. Horton, Eleni P. Asimacopoulos, Konstantina M. Stanković, Lacey Plummer, Cassandra Buck, Richard Quinton, Todd D. Nebesio, Verónica Mericq, Paulina M. Merino, Brian F. Meyer, Dorota Monies, James F. Gusella, Nada Al Tassan, Nicholas Katsanis, William F. Crowley

    出版 2014
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  11. 11
    Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

    Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease 由 Eman A.A. Al Yemni, Dorota Monies, Thamer Alkhairallah, Saeed Bohlega, Mohamed Abouelhoda, Amna Magrashi, Abeer E. Mustafa, Basma Al-Abdulaziz, Mohamed H. Al‐Hamed, Batoul Baz, Ewa Goljan, Renad Albar, Amjad Jabaan, Tariq Faquih, Shazia Subhani, Wafa Ali Eltayb, Jameela Shinwari, Bashayer Al‐Mubarak, Nada Al Tassan

    出版 2019
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  12. 12
    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

    Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies 由 Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya, Shamsa Anazi, Hadeel Alsharif, Arif O. Khan, Asma Sunker, Saleh Al-mohsen, Emad B. Abboud, Sawsan R. Nowilaty, Mohammed Al‐Owain, Hamad Alzaidan, Bandar Al‐Saud, Ali Alasmari, Ghada M. H. Abdel‐Salam, Mohamed Abouelhoda, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Abeer Al‐Mostafa, Abdulelah AlIssa, Mais Hashem, Olga Buzovetsky, Yong Xiong, Dorota Monies, Nada Al Tassan, Ranad Shaheen, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya

    出版 2015
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  13. 13
    A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

    A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer 由 Nada Al Tassan, Nicola Whiffin, Fay J. Hosking, Claire Palles, Susan M. Farrington, Sara E. Dobbins, Rebecca Harris, Maggie Gorman, Albert Tenesa, Brian F. Meyer, Salma M. Wakil, Ben Kinnersley, Harry Campbell, Lynn Martin, Christopher G. Smith, Shelley Idziaszczyk, Ella Barclay, Tim Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D. Buchanan, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steve Gallinger, David V. Conti, Fredrick R. Schumacher, Graham Casey, Malcolm G. Dunlop, Ian Tomlinson, Jeremy P. Cheadle, Richard S. Houlston

    出版 2015
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  14. 14
    Characterizing the morbid genome of ciliopathies

    Characterizing the morbid genome of ciliopathies 由 Ranad Shaheen, Katarzyna Szymańska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al‐Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David Parry, Nada Al Tassan, Dorota Monies, André Mégarbané, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

    出版 2016
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  15. 15
    Expanding the genetic heterogeneity of intellectual disability

    Expanding the genetic heterogeneity of intellectual disability 由 Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T. Asi, Saud Alsahli, Amal Alhashem, Hanan E. Shamseldin, Fatema Alzahrani, Nisha Patel, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadia Alhashmi, Fathiya Al Murshedi, Adila Al Kindy, Ahmad Alshaer, Ahmed Al Rumayyan, Saeed Al Tala, Wesam Kurdi, Abdulaziz Alsaman, Ali Alasmari, Selina Banu, Tipu Sultan, Mohammed M. Saleh, Hisham Alkuraya, Mustafa A. Salih, Hesham Aldhalaan, Tawfeg Ben‐Omran, Fatima Al Musafri, Rehab Ali, Jehan Suleiman, Brahim Tabarki, Ayman W. El‐Hattab, Caleb Bupp, Majid Alfadhel, Nada Al Tassan, Dorota Monies, Stefan T. Arold, Mohamed Abouelhoda, Tammaryn Lashley, Henry Houlden, Eissa Faqeih, Fowzan S. Alkuraya

    出版 2017
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  16. 16
    Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

    Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis 由 Sebastian May-Wilson, Amit Sud, Philip Law, Kimmo Palin, Sari Tuupanen, Alexandra E. Gylfe, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Johan G. Eriksson, Harri Rissanen, Paul Knekt, ­Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Laura Renkonen‐Sinisalo, Anna Lepistö, Jan Böhm, Jukka‐Pekka Mecklin, Nada Al Tassan, Claire Palles, Susan M. Farrington, Maria Timofeeva, Brian F. Meyer, Salma M. Wakil, Harry Campbell, Christopher G. Smith, Shelley Idziaszczyk, Tim Maughan, David J. Fisher, Rachel Kerr, David Kerr, Michael N. Passarelli, Jane C. Figueiredo, Daniel D. Buchanan, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steven Gallinger, David V. Conti, Fredrick R. Schumacher, Graham Casey, Lauri A. Aaltonen, Jeremy P. Cheadle, Ian Tomlinson, Malcolm G. Dunlop, Richard S. Houlston

    出版 2017
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  17. 17
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia 由 Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    出版 2018
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  18. 18
    Variation at 2q35 (<i>PNKD</i>and<i>TMBIM1</i>) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

    Variation at 2q35 (<i>PNKD</i>and<i>TMBIM1</i>) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease 由 Giulia Orlando, Philip Law, Kimmo Palin, Sari Tuupanen, Alexandra E. Gylfe, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti‐Pekka Sarin, Jaakko Kaprio, Johan G. Eriksson, Harri Rissanen, Paul Knekt, ­Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Jan Böhm, Jukka‐Pekka Mecklin, Nada Al Tassan, Claire Palles, Lynn Martin, Ella Barclay, Albert Tenesa, Susan M. Farrington, Maria Timofeeva, Brian F. Meyer, Salma M. Wakil, Harry Campbell, Christopher G. Smith, Shelley Idziaszczyk, Tim Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D. Buchanan, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steve Gallinger, David V. Conti, Fredrick R. Schumacher, Graham Casey, Jussi Taipale, Jeremy P. Cheadle, Malcolm G. Dunlop, Ian Tomlinson, Lauri A. Aaltonen, Richard S. Houlston

    出版 2016
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  19. 19
    Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

    Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer 由 David M. Jarvis, Jonathan S. Mitchell, Philip Law, Kimmo Palin, Sari Tuupanen, Alexandra E. Gylfe, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Jaakko Kaprio, Johan G. Eriksson, Harri Rissanen, Paul Knekt, ­Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Meklin, Nada Al Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M. Farrington, Maria Timofeeva, Brian F. Meyer, Salma M. Wakil, Harry Campbell, Christopher G. Smith, Shelley Idziaszczyk, Tim Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D. Buchanan, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steve Gallinger, David V. Conti, Fredrick R. Schumacher, Graham Casey, Jussi Taipale, Lauri A. Aaltonen, Jeremy P. Cheadle, Malcolm G. Dunlop, Ian Tomlinson, Richard S. Houlston

    出版 2016
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  20. 20
    Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

    Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer 由 Henry Rodriguez‐Broadbent, Philip Law, Amit Sud, Kimmo Palin, Sari Tuupanen, Alexandra E. Gylfe, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti‐Pekka Sarin, Samuli Ripatti, Johan G. Eriksson, Harri Rissanen, Paul Knekt, ­Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Aarno Palotie, Laura Renkonen‐Sinisalo, Anna Lepistö, Jan Böhm, Jukka‐Pekka Mecklin, Nada Al Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M. Farrington, Maria Timofeeva, Brian F. Meyer, Salma M. Wakil, Harry Campbell, Christopher G. Smith, Shelley Idziaszczyk, Tim Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Michael N. Passarelli, Jane C. Figueiredo, Daniel D. Buchanan, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steven Gallinger, David V. Conti, Fredrick R. Schumacher, Graham Casey, Lauri A. Aaltonen, Jeremy P. Cheadle, Ian Tomlinson, Malcolm G. Dunlop, Richard S. Houlston

    出版 2017
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