Zobrazeno 1 - 10
of 46
pro vyhledávání: '"de Brouwer, Arjan P.M."'
Autor:
Pen, Anja E., Nyegaard, Mette, Fang, Mingyan, Jiang, Hui, Christensen, Rikke, Mølgaard, Henning, Andersen, Henning, Ulhøi, Benedicte Parm, Østergaard, John R., Væth, Signe, Sommerlund, Mette, de Brouwer, Arjan P.M., Zhang, Xiuqing, Jensen, Uffe B.
Publikováno v:
In European Journal of Medical Genetics April 2015 58(4):222-229
Autor:
Fatima, Neelam, Dillen, Lieke, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, Ali Khan, Asma, de Brouwer, Arjan P.M., van Bokhoven, Hans
Publikováno v:
In Stem Cell Research October 2024 80
Autor:
Dillen, Lieke, Fatima, Neelam, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, van Hagen, Johanna M., de Vries, Bert B.A., Khan, Asma Ali, de Brouwer, Arjan P.M., van Bokhoven, Hans
Publikováno v:
In Stem Cell Research June 2024 77
Autor:
Willemsen, Marjolein H., de Leeuw, Nicole, de Brouwer, Arjan P.M., Pfundt, Rolph, Hehir-Kwa, Jayne Y., Yntema, Helger G., Nillesen, Willy M., de Vries, Bert B.A., van Bokhoven, Hans, Kleefstra, Tjitske
Publikováno v:
In European Journal of Medical Genetics November 2012 55(11):586-598
Autor:
Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.
Publikováno v:
In The Journal of Molecular Diagnostics 2009 11(6):562-568
Autor:
Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.
Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the Australian family that defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::cf30b1efde11533bbec9d2789e91ed1e
https://www.bib.irb.hr/1275508
https://www.bib.irb.hr/1275508
Autor:
Ansar, Muhammad, Riazuddin, Saima, Sarwar, Muhammad Tahir, Makrythanasis, Periklis, Paracha, Sohail Aziz, Iqbal, Zafar, Khan, Jamshed, Assir, Muhammad Zaman, Hussain, Mureed, Razzaq, Attia, Polla, Daniel Lôpo, Taj, Abid Sohail, Holmgren, Asbjørn, Batool, Naila, Misceo, Doriana, Iwaszkiewicz, Justyna, de Brouwer, Arjan P.M., Guipponi, Michel, Hanquinet, Sylviane, Zoete, Vincent, Santoni, Federico A., Frengen, Eirik, Ahmed, Jawad, Riazuddin, Sheikh, Van Bokhoven, Hans, Antonarakis, Stylianos E.
Publikováno v:
Ansar, Muhammad Riazuddin, Saima Sarwar, Muhammad Tahir Makrythanasis, Periklis Paracha, Sohail Aziz Iqbal, Zafar Khan, Jamshed Assir, Muhammad Zaman Hussain, Mureed Razzaq, Attia Polla, Daniel Lôpo Taj, Abid Sohail Holmgren, Asbjørn Batool, Naila Misceo, Doriana Iwaszkiewicz, Justyna de Brouwer, Arjan P.M. Guipponi, Michel Hanquinet, Sylviane Zoete, Vincent Santoni, Federico A. Frengen, Eirik Ahmed, Jawad Riazuddin, Sheikh Van Bokhoven, Hans Antonarakis, Stylianos E. . Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genetics in Medicine. 2017
Genetics in Medicine
Genetics in Medicine
Externí odkaz:
http://hdl.handle.net/10852/63293
https://www.duo.uio.no/bitstream/handle/10852/63293/1/LINGO1.pdf
https://www.duo.uio.no/bitstream/handle/10852/63293/1/LINGO1.pdf
Autor:
Polla, Daniel L., Farazi Fard, Mohammad Ali, Tabatabaei, Zahra, Habibzadeh, Parham, Levchenko, Olga A., Nikuei, Pooneh, Makrythanasis, Periklis, Hussain, Mureed, von Hardenberg, Sandra, Zeinali, Sirous, Fallah, Mohammad-Sadegh, Schuurs-Hoeijmakers, Janneke H.M., Shahzad, Mohsin, Fatima, Fareeha, Fatima, Neelam, Kaat, Laura Donker, Bruggenwirth, Hennie T., Fleming, Leah R., Condie, John, Ploski, Rafal, Pollak, Agnieszka, Pilch, Jacek, Demina, Nina A., Chukhrova, Alena L., Sergeeva, Vasilina S., Venselaar, Hanka, Masri, Amira T., Hamamy, Hanan, Santoni, Federico A., Linda, Katrin, Ahmed, Zubair M., Nadif Kasri, Nael, de Brouwer, Arjan P.M., Bergmann, Anke K., Hethey, Sven, Yavarian, Majid, Ansar, Muhammad, Riazuddin, Saima, Riazuddin, Sheikh, Silawi, Mohammad, Ruggeri, Gaia, Pirozzi, Filomena, Eftekhar, Ebrahim, Taghipour Sheshdeh, Afsaneh, Bahramjahan, Shima, Mirzaa, Ghayda M., Lavrov, Alexander V., Antonarakis, Stylianos E., Faghihi, Mohammad Ali, van Bokhoven, Hans
Publikováno v:
Genetics in Medicine; July 2021, Vol. 23 Issue: 7 p1246-1254, 9p
Autor:
Philips, Anju K., Voesenek, Krysta, Willemsen, Michèl A.A.P., Obersztyn, Ewa, Xiong, Yue, de Vries, Bert B.A., Odent, Sylvie, Kleefstra, Tjitske, Lebrun, Nicolas, van Bokhoven, Hans, Charzewska, Agnieszka, Chelly, Jamel, Fischer, Ute, Ropers, Hans-Hilger, Nillesen, Willy M., Vigneron, Jacqueline, Baumer, Alessandra, Lenart, Jacek, Barkovich, A. James, Brunner, Han G., Rauch, Anita, Kalscheuer, Vera M., Poirier, Karine, Yntema, Helger G., Amram, Daniel, de Brouwer, Arjan P.M., Nawara, Magdalena, Raymond, F. Lucy, Järvelä, Irma
Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and conf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::114b54481c00292538d48813d6b559fa
Autor:
Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.
Publikováno v:
Genetics in Medicine; April 2020, Vol. 22 Issue: 4 p797-802, 6p