المؤلفون: Pathak, Sagar J, Mueller, James L, Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E, Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R, Axelsson, Irene, Agardh, Daniel, Boland, C Richard, Martin, Martin G, Putnam, Christopher D, Sivagnanam, Mamata

المصدر: Human mutation. 40(2)

مصطلحات موضوعية: Epithelial Cells, Humans, Colorectal Neoplasms, Hereditary Nonpolyposis, Malabsorption Syndromes, Diarrhea, Infantile, RNA Splice Sites, Mutation, Missense, Models, Molecular, MutS Homolog 2 Protein, Genetic Association Studies, Epithelial Cell Adhesion Molecule, EPCAM, Lynch syndrome, congenital tufting enteropathy, genotype-phenotype correlation, in silico simulation, protein modeling, Colorectal Neoplasms, Hereditary Nonpolyposis, Diarrhea, Infantile, Models, Molecular, Mutation, Missense, Genetics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3hx9c0v4

المؤلفون: Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa^{Aff5, Aff6}, Al Mutairi, Fuad^{Aff5, Aff6}, Alfares, Ahmed^{Aff7, Aff8}, Albalwi, Mohammed A.^{Aff6, Aff8}, Alfadhel, Majid^{Aff5, Aff6}, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt^{Aff1, Aff12}, Bauer, Peter^Aff1

المصدر: European Journal of Human Genetics. 29(1):141-153

المؤلفون: Stringer, Robin N.^{Aff1, Aff2}, Jurkovicova-Tarabova, Bohumila, Souza, Ivana A., Ibrahim, Judy, Vacik, Tomas, Fathalla, Waseem Mahmoud, Hertecant, Jozef^{Aff5, Aff8}, Zamponi, Gerald W., Lacinova, Lubica, Weiss, Norbert^{Aff1, Aff2, Aff3, Aff6}

المصدر: Molecular Brain. 14(1)

المؤلفون: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora^{Aff5, Aff6}, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid^{Aff17, Aff18, Aff19}, Eslahi, Atieh^{Aff17, Aff20}, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor^{Aff23, Aff24}, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza^{Aff36, Aff37}, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan^{Aff39, Aff40}, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan^Aff1

المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442

المؤلفون: Yau, Mabel, Haider, Shozeb, Khattab, Ahmed, Ling, Chen, Mathew, Mehr, Zaidi, Samir, Bloch, Madison, Patel, Monica, Ewert, Sinead, Abdullah, Wafa, Toygar, Aysenur, Mudryi, Vitalii, Badi, Maryam Al, Alzubdi, Mouch, Wilson, Robert C., Azkawi, Hanan Said Al, Ozdemir, Hatice Nur, Abu-Amer, Wahid, Hertecant, Jozef, Razzaghy-Azar, Maryam, Funder, John W., Senani, Aisha Al, Sun, Li, Kim, Se-Min, Yuen, Tony, Zaidi, Mone, New, Maria I.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Dec . 114(52), E11248-E11256.

URL الوصول: https://www.jstor.org/stable/26488808

المؤلفون: Below, Jennifer E, Earl, Dawn L, Shively, Kathryn M, McMillin, Margaret J, Smith, Joshua D, Turner, Emily H, Stephan, Mark J, Al-Gazali, Lihadh I, Hertecant, Jozef L, Chitayat, David, Unger, Sheila, Cohn, Daniel H, Krakow, Deborah, Swanson, James M, Faustman, Elaine M, Shendure, Jay, Nickerson, Deborah A, Bamshad, Michael J, Genomics, University of Washington Center for Mendelian

المصدر: American Journal of Human Genetics. 92(1)

مصطلحات موضوعية: Genetics, Biotechnology, Clinical Research, Congenital Structural Anomalies, Kidney Disease, Human Genome, Pediatric, Child, Child, Preschool, Female, Genome, Human, Humans, Infant, Infant, Newborn, Male, Mutation, Osteochondrodysplasias, Phosphatidylinositol-3, 4, 5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m17r3zz

المؤلفون: Al-Shamsi, Aisha^Aff13, Baker, Alastair^Aff14, Dhawan, Anil^Aff14, Hertecant, Jozef^Aff13

المساهمون: Baumgartner, Matthias R., Series editor^Aff1, Patterson, Marc, Series editor^{Aff2, Aff9}, Rahman, Shamima, Series editor^{Aff3, Aff10}, Peters, Verena, Series editor^{Aff4, Aff12}, Morava, Eva, Editor-in-chief^{Aff5, Aff7}, Zschocke, Johannes, Series editor^{Aff6, Aff11}, Baumgartner, Matthias, editor^Aff8

المصدر: JIMD Reports, Volume 30. 30:59-62

المؤلفون: Al-Jasmi, Fatma A.^Aff7, Al-Shamsi, Aisha^Aff8, Hertecant, Jozef L.^Aff8, Al-Hamad, Sania M.^Aff7, Souid, Abdul-Kader^Aff7

المساهمون: Morava, Eva, editor^Aff1, Baumgartner, Matthias, editor^Aff2, Patterson, Marc, editor^Aff3, Rahman, Shamima, editor^Aff4, Zschocke, Johannes, editor^Aff5, Peters, Verena, editor^Aff6

المصدر: JIMD Reports, Volume 28. 28:127-135

المؤلفون: Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Al-Zaabi, Olfat, Fathallah, Waseem, Cui, Hong, Yang, Yaping, Eng, Christine M., Al Sorkhy, Mohammad, Ghattas, Mohammad A., Al-Gazali, Lihadh, Ali, Bassam R.

المصدر: In European Journal of Medical Genetics April 2017 60(4):212-216

المؤلفون: Al-Dirbashi, Osama Y.^{Aff1, Aff2, Aff3, Aff4}, Alfadhel, Majid^{Aff5, Aff6, Aff7}, Al-Thihli, Khalid, Al Dhahouri, Nahid, Langhans, Claus-Dieter, Al Hammadi, Zalikha, Al-Shamsi, Aisha, Hertecant, Jozef^{Aff1, Aff11}, Okun, Jürgen G., Hoffmann, Georg F., Al-Jasmi, Fatma^{Aff1, Aff11}

المصدر: Scientific Reports. 9(1)