المؤلفون: Orfali, Razan, AlFaiz, Ali, Rahman, Mohammad Asikur, Lau, Liz, Nam, Young-Woo, Zhang, Miao

المصدر: Pharmacy Faculty Articles and Research

مصطلحات موضوعية: KCa2 channels, lungs, motile cilia, cystic fibrosis, anosmia, chronic obstructive pulmonary diseases, Amino Acids, Peptides, and Proteins, Cardiovascular Diseases, Medicinal and Pharmaceutical Chemistry, Other Pharmacy and Pharmaceutical Sciences

وصف الملف: application/pdf

Relation: https://digitalcommons.chapman.edu/pharmacy_articles/998; https://digitalcommons.chapman.edu/context/pharmacy_articles/article/1998/viewcontent/KCa2_and_KCa3.1_Channels_in_the_Airways_A_New_Therapeutic_Target.pdf

الاتاحة: https://digitalcommons.chapman.edu/pharmacy_articles/998
https://doi.org/10.3390/biomedicines11071780
https://digitalcommons.chapman.edu/context/pharmacy_articles/article/1998/viewcontent/KCa2_and_KCa3.1_Channels_in_the_Airways_A_New_Therapeutic_Target.pdf

المؤلفون: Orfali, Razan¹ (AUTHOR) meaad_6@hotmail.com, AlFaiz, Ali¹ (AUTHOR), Alanazi, Madhawi¹ (AUTHOR), Alabdulsalam, Rahaf¹ (AUTHOR), Alharbi, Meaad¹ (AUTHOR), Alromaih, Yara¹ (AUTHOR), Dallak, Ismail² (AUTHOR), Alrahal, Marah¹ (AUTHOR), Alwatban, Abdulaziz³ (AUTHOR), Saud, Reem⁴ (AUTHOR)

المصدر: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10551. 17p.

مصطلحات موضوعية: *CYSTIC fibrosis transmembrane conductance regulator, *CHLORIDE channels, *ION channels, *SODIUM channels, *TRPV cation channels, *LIQUID sodium, *MUCOCILIARY system

المؤلفون: AlJishi, Hala, Kusuma, Dian, AlQurashi, Alaa, AlFaiz, Ali, AlSaad, Abdulaziz, Aljishi, Maha

المصدر: Frontiers in Public Health ; volume 10 ; ISSN 2296-2565

الاتاحة: http://dx.doi.org/10.3389/fpubh.2022.713460
https://www.frontiersin.org/articles/10.3389/fpubh.2022.713460/full

المؤلفون: Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C., Harewood, Louise, Kosmicki, Jack A., Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M., Alfaiz, Ali Abdullah, van Haelst, Mieke M., Andrieux, Joris, Gusella, James F., Daly, Mark J., Beckmann, Jacques S., Jacquemont, Sébastien, Talkowski, Michael E., Katsanis, Nicholas, Reymond, Alexandre, Witwicki, Robert, Didelot, Gérard, van der Werf, Ilse, Alfaiz, Ali A., Zazhytska, Marianna, Chrast, Jacqueline, Macé, Aurélien, Bergmann, Sven, Kutalik, Zoltan, Siffredi, Vanessa, Zufferey, Flore, Martinet, Danielle, Bena, Frédérique, Rauch, Anita, Bouquillon, Sonia, Delobel, Bruno, Boute, Odile, Duban-Bedu, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Chiesa, Jean

المصدر: The American Journal of Human Genetics ; volume 96, issue 5, page 784-796 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2015.04.002
https://api.elsevier.com/content/article/PII:S0002929715001391?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0002929715001391?httpAccept=text/xml

المؤلفون: Terrone, Gaetano, Voisin, Norine, Abdullah Alfaiz, Ali, Cappuccio, Gerarda, Vitiello, Giuseppina, Guex, Nicolas, D’Amico, Alessandra, James Barkovich, A, Brunetti-Pierri, Nicola, Del Giudice, Ennio, Reymond, Alexandre

المصدر: European Journal of Human Genetics ; volume 24, issue 9, page 1359-1362 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2016.7
http://www.nature.com/articles/ejhg20167.pdf
http://www.nature.com/articles/ejhg20167

المؤلفون: Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre

المصدر: European Journal of Human Genetics ; volume 24, issue 7, page 1001-1008 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2015.227
http://www.nature.com/articles/ejhg2015227.pdf
http://www.nature.com/articles/ejhg2015227

المؤلفون: Naeem, Asif, Elbakkouri, Karim, Alfaiz, Ali, Hamed, Maaweya E., Alsaran, Hadel, AlOtaiby, Shahad, Enani, Mushira, Alosaimi, Bandar

المصدر: Journal of Medical Virology ; volume 92, issue 12, page 3016-3027 ; ISSN 0146-6615 1096-9071

الاتاحة: http://dx.doi.org/10.1002/jmv.25759
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjmv.25759
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmv.25759
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmv.25759

المؤلفون: Alamri, Abdullah S., Alshowaeir, Daniah A., AlFaiz, Ali A., Al Mousawi, Fatimah H., Mahmoud, Adel A., Alhashim, Aqeela H.

المصدر: Journal of Neuro-Ophthalmology ; volume 39, issue 3, page 391-393 ; ISSN 1070-8022

الاتاحة: http://dx.doi.org/10.1097/wno.0000000000000795
https://journals.lww.com/10.1097/WNO.0000000000000795

المؤلفون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C., Harewood, Louise, Kosmicki, Jack A., Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M., Alfaiz, Ali Abdullah, Witwicki, Robert, Didelot, Gérard, Van Der Werf, Ilse, Alfaiz, Ali A., Zazhytska, Marianna, Chrast, Jacqueline, Macé, Aurélien, Bergmann, Sven, Kutalik, Zoltan, Siffredi, Vanessa, Zufferey, Flore, Martinet, Danielle, Bena, Frédérique, Rauch, Anita, Bouquillon, Sonia, Delobel, Bruno, Boute, Odile, Duban-Bedu, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Chiesa, Jean, Keren, Boris, Gilbert-Dussardier, Brigitte, Touraine, Renaud, Campion, Dominique, Thambo, Caroline Rooryck, Mathieu-Dramard, Michèle, Plessis, Ghislaine, Kooy, Frank, Peeters, Hilde, Ounap, Katrin, Vulto-Van Silfhout, Anneke T., De Vries, Bert B., Van Binsbergen, Ellen, Nordgren, Ann, Mucciolo, Mafalda, Renieri, Alessandra, Rajcan-Separovic, Evica, Philipps, John A., Ellis, Richard J., Van Haelst, Mieke M., Andrieux, Joris, Gusella, James F., Daly, Mark J., Beckmann, Jacques S., Jacquemont, Sébastien, Talkowski, Michael E., Katsanis, Nicholas, Reymond, Alexandre

URL: https://doi.org/10.1016/j.ajhg.2015.04.002
http://hdl.handle.net/1874/332048
https://dspace.library.uu.nl/handle/1874/332048
http://www.scopus.com/inward/record.url?scp=84929997450&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
96
5
784
796

المؤلفون: Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, Van Der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, Van Der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, Mackay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, De Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-Van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, De Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela Qcm, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, Didonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie Van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, Deedee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A

المصدر: http://infoscience.epfl.ch/record/227170.

Relation: http://infoscience.epfl.ch/record/227170; ISI:000401702800007; https://infoscience.epfl.ch/record/227170/files/mp201684.pdf

الاتاحة: http://infoscience.epfl.ch/record/227170
https://doi.org/10.1038/mp.2016.84
https://infoscience.epfl.ch/record/227170/files/mp201684.pdf

المؤلفون: Fusco, Carmela, Nittis, Pasquelena, Alfaiz, Ali, Pellico, Maria, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe

المصدر: Journal of Pediatric Genetics ; volume 06, issue 02, page 098-102 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0036-1588029
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0036-1588029.pdf

المؤلفون: Dikoglu, Esra, Alfaiz, Ali, Gorna, Maria, Bertola, Deborah, Chae, Jong Hee, Cho, Tae‐Joon, Derbent, Murat, Alanay, Yasemin, Guran, Tulay, Kim, Ok‐Hwa, Llerenar Jr, Juan C., Yamamoto, Guillerme, Superti‐Furga, Giulio, Reymond, Alexandre, Xenarios, Ioannis, Stevenson, Brian, Campos‐Xavier, Belinda, Bonafé, Luisa, Superti‐Furga, Andrea, Unger, Sheila

المساهمون: Brazil-Switzerland Joint Research Program CoSMO-B, Swiss National Foundation, University of Lausanne (Fonds de Développement de la Recherche en Pédiatrie), Leenaards Foundation in Lausanne (www.leenaards.ch)

المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 7, page 1501-1509 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.37029
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.37029
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37029

المؤلفون: Fusco, Carmela, Nittis, Pasquelena De, Alfaiz, Ali Abdullah, Pellico, Maria Teresa, Augello, Bartolomeo, Malerba, Natascia, Zelante, Leopoldo, Reymond, Alexandre, Merla, Giuseppe

المصدر: Journal of Pediatric Genetics; June 2017, Vol. 6 Issue: 2 p098-102, 5p

المؤلفون: Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre

المصدر: European Journal of Human Genetics: EJHG; July 2016, Vol. 24 Issue: 7 p1001-1008, 8p

المؤلفون: Alfaiz, Ali Abdullah, Micale, Lucia, Mandriani, Barbara, Augello, Bartolomeo, Pellico, Maria Teresa, Chrast, Jacqueline, Xenarios, Ioannis, Zelante, Leopoldo, Merla, Giuseppe, Reymond, Alexandre

المصدر: Human Mutation; Apr2014, Vol. 35 Issue 4, p447-451, 5p

المؤلفون: AlQurashi, Alaa Ashraf, Kusuma, Dian, AlJishi, Hala, AlFaiz, Ali, AlSaad, Abdulaziz

المصدر: International Journal of Environmental Research & Public Health; Jun2021, Vol. 18 Issue 12, p6502, 1p

المؤلفون: Alhabeeb, Habeeb, AlFaiz, Ali, Kutbi, Emad, AlShahrani, Dayel, Alsuhail, Abdullah, AlRajhi, Saleh, Alotaibi, Nemer, Alotaibi, Khalid, AlAmri, Saad, Alghamdi, Saleh, AlJohani, Naji

المصدر: Nutrients; Feb2021, Vol. 13 Issue 2, p481-481, 1p

المؤلفون: Loviglio, M N, Leleu, M, Männik, K, Passeggeri, M, Giannuzzi, G, Van Der Werf, I, Waszak, S M, Zazhytska, M, Roberts-Caldeira, I, Gheldof, N, Migliavacca, E, Alfaiz, A A, Hippolyte, L, Maillard, A M, Loviglio, Maria Nicla, Männik, Katrin, Van Der Werf, Ilse, Giannuzzi, Giuliana, Zazhytska, Marianna, Gheldof, Nele, Migliavacca, Eugenia, Alfaiz, Ali A, Roberts-Caldeira, Inês, Hippolyte, Loyse, Maillard, Anne M, Ferrarini, Alessandra, Butschi, Florence Niel, Conrad, Bernard, Addor, Marie-Claude, Belfiore, Marco, Roetzer, Katharina, Dijck, Anke Van, Blaumeiser, Bettina, Kooy, Frank, Roelens, Filip, Dheedene, Annelies, Chiaie, Barbara Delle, Menten, Björn, Oostra, Ann, Caberg, Jean-Hubert, Carter, Melissa, Kellam, Barbara, Stavropoulos, Dimitri J, Marshall, Christian, Scherer, Stephen W, Weksberg, Rosanna, Cytrynbaum, Cheryl, Bassett, Anne, Lowther, Chelsea, Gillis, Jane, Mackay, Sara, Bache, Iben, Ousager, Lilian B, Smerdel, Maja Patricia, Graakjaer, Jesper, Kjaergaard, Susanne, Metspalu, Andres, Mathieu, Michele, Bonneau, Dominique, Guichet, Agnes, Parent, Philippe, Férec, Claude, Gerard, Marion, Plessis, Ghislaine, Lespinasse, James, Masurel, Alice, Marle, Nathalie, Faivre, Laurence, Callier, Patrick, Layet, Valerie, Meur, Nathalie Le, Le Goff, Céline, Duban-Bedu, Bénédicte, Sukno, Sylvie, Boute, Odile, Andrieux, Joris, Blanchet, Patricia, Geneviève, David, Puechberty, Jacques, Schneider, Anouck, Leheup, Bruno, Jonveaux, Philippe, Mercier, Sandra, David, Albert, Le Caignec, Cédric, De Pontual, Loic, Pipiras, Eva, Jacquette, Aurelia, Keren, Boris, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Goldenberg, Alice, Chambon, Pascal, Toutain, Annick, Till, Marianne, Sanlaville, Damien, Leube, Barbara, Royer-Pokora, Brigitte, Grabe, Hans Jörgen, Schmidt, Carsten Oliver, Schurmann, Claudia, Homuth, Georg, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Bernardini, Laura, Novelli, Antonio, Micale, Lucia, Merla, Giuseppe, Zollino, Marcella, Mari, Francesca, Rizzo, Caterina Lo, Renieri, Alessandra, Silengo, Margherita, Vulto-Van Silfhout, Anneke T, Schouten, Meyke, Pfundt, Rolph, De Leeuw, Nicole, Vansenne, Fleur, Maas, Saskia M, Barge-Schaapveld, Daniela Qcm, Knegt, Alida C, Stadheim, Barbro, Rodningen, Olaug, Houge, Gunnar, Price, Sue, Hawkes, Lara, Campbell, Carolyn, Kini, Usha, Vogt, Julie, Walters, Robin, Blakemore, Alexandra, Gusella, James F, Shen, Yiping, Scott, Daryl, Bacino, Carlos A, Tsuchiya, Karen, Ladda, Roger, Sell, Susan, Asamoah, Alexander, Hamati, Aline I, Rosenfeld, Jill A, Shaffer, Lisa G, Mitchell, Elyse, Hodge, Jennelle C, Beckmann, Jacques S, Jacquemont, Sébastien, Reymond, Alexandre, Ewans, Lisa J, Mowat, David, Walker, Jan, Amor, David J, Esch, Hilde Van, Leroy, Patricia, Bamforth, John-Steven, Babu, Deepti, Isidor, Bertrand, Didonato, Nataliya, Hackmann, Karl, Passeggeri, Marzia, Haeringen, Arie Van, Smith, Rosemarie, Ellingwood, Sara, Farber, Darren M, Puri, Vinay, Zadeh, Neda, Weaver, David D, Miller, Mandy, Wilks, Timothy, Jorgez, Carolina J, Lafayette, Deedee, Van Dijck, A, Kooy, R F, Sanlaville, D, Rosenfeld, J A, Shaffer, L G, Andrieux, J, Marshall, C, Scherer, S W, Shen, Y, Gusella, J F, Thorsteinsdottir, U, Thorleifsson, G, Dermitzakis, E T, Deplancke, B, Beckmann, J S, Rougemont, J, Jacquemont, S, Reymond, A, 2p15 Consortium, 16p11 2 Consortium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______185::922660d29f59b784e198371d231653c3
https://infoscience.epfl.ch/record/227170

المؤلفون: Giuseppina Vitiello, A. James Barkovich, Alexandre Reymond, Gaetano Terrone, Nicola Brunetti-Pierri, Nicolas Guex, Ennio Del Giudice, Alessandra D'Amico, Gerarda Cappuccio, Ali Abdullah Alfaiz, Norine Voisin

المساهمون: Terrone, Gaetano, Voisin, Norine, Abdullah Alfaiz, Ali, Cappuccio, Gerarda, Vitiello, Giuseppina, Guex, Nicola, D’Amico, Alessandra, James Barkovich, A., BRUNETTI PIERRI, Nicola, DEL GIUDICE, Ennio, Reymond, Alexandre

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pathology, Short Report, Mutation, Missense, Biology, Corpus callosum, 03 medical and health sciences, Phosphatidylinositol 3-Kinases, Genetic linkage, medicine, Polymicrogyria, Genetics, Humans, Megalencephaly, Child, Genetics (clinical), Cytogenetics, Syndrome, Cortical dysplasia, Perisylvian polymicrogyria, medicine.disease, Malformations of Cortical Development, 030104 developmental biology, Phenotype, Medical genetics, Agenesis of Corpus Callosum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a3a90623211816c4b3656edad888cc
http://hdl.handle.net/11588/634459