Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

por Padhi, Evin M., Hayeck, Tristan J., Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J., Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D., Akiyama, Jennifer, Fries, Lauren E., Ng, Jeffrey K., Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S., Dickel, Diane E., Bernier, Raphael A., Gorkin, David U., Pennacchio, Len A., Zody, Michael C., Turner, Tychele N.
Publicado 2021

New Materials and Technologies for Durability and Conservation of Building Heritage

por Coppola, Luigi, Bellezze, Tiziano, Belli, Alberto, Bianco, Alessandra, Blasi, Elisa, Cappello, Miriam, Caputo, Domenico, Chougan, Mehdi, Coffetti, Denny, Coppola, Bartolomeo, Corinaldesi, Valeria, D’Amore, Alberto, Daniele, Valeria, Di Maio, Luciano, Di Palma, Luca, Donnini, Jacopo, Ferrara, Giuseppe, Filippi, Sara, Gastaldi, Matteo, Generosi, Nicola, Giosuè, Chiara, Incarnato, Loredana, Lamastra, Francesca, Liguori, Barbara, Macera, Ludovico, Maqbool, Qaisar, Mascolo, Maria Cristina, Mavilia, Letterio, Mazzoli, Alida, Medici, Franco, Mobili, Alessandra, Montesperelli, Giampiero, Pia, Giorgio, Redaelli, Elena, Ruello, Maria Letizia, Scarfato, Paola, Taglieri, Giuliana, Tittarelli, Francesca, Tulliani, Jean-Marc, Valenza, Antonino
Publicado 2023

Impact of COVID-19 on cancer care in India: a cohort study

por Ranganathan, Priya, Sengar, Manju, Chinnaswamy, Girish, Agrawal, Gaurav, Arumugham, Rajkumar, Bhatt, Rajiv, Bilimagga, Ramesh, Chakrabarti, Jayanta, Chandrasekharan, Arun, Chaturvedi, Harit Kumar, Choudhrie, Rajiv, Dandekar, Mitali, Das, Ashok, Goel, Vineeta, Harris, Caleb, Hegde, Sujai Kolnadguthu, Hulikal, Narendra, Joseph, Deepa, Kantharia, Rajesh, Khan, Azizullah, Kharde, Rohan, Khattry, Navin, Lone, Maqbool M, Mahantshetty, Umesh, Malhotra, Hemant, Menon, Hari, Mishra, Deepti, Nair, Rekha A, Pandya, Shashank J, Patni, Nidhi, Pautu, Jeremy, Pavamani, Simon, Pradhan, Satyajit, Thammineedi, Subramanyeshwar Rao, Selvaluxmy, G, Sharan, Krishna, Sharma, B K, Sharma, Jayesh, Singh, Suresh, Srungavarapu, Gowtham Chandra, Subramaniam, R, Toprani, Rajendra, Raman, Ramanan Venkat, Badwe, Rajendra Achyut, Pramesh, C S
Publicado 2021

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

por Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza
Publicado 2023

Affimer proteins are versatile and renewable affinity reagents

por Tiede, Christian, Bedford, Robert, Heseltine, Sophie J, Smith, Gina, Wijetunga, Imeshi, Ross, Rebecca, AlQallaf, Danah, Roberts, Ashley PE, Balls, Alexander, Curd, Alistair, Hughes, Ruth E, Martin, Heather, Needham, Sarah R, Zanetti-Domingues, Laura C, Sadigh, Yashar, Peacock, Thomas P, Tang, Anna A, Gibson, Naomi, Kyle, Hannah, Platt, Geoffrey W, Ingram, Nicola, Taylor, Thomas, Coletta, Louise P, Manfield, Iain, Knowles, Margaret, Bell, Sandra, Esteves, Filomena, Maqbool, Azhar, Prasad, Raj K, Drinkhill, Mark, Bon, Robin S, Patel, Vikesh, Goodchild, Sarah A, Martin-Fernandez, Marisa, Owens, Ray J, Nettleship, Joanne E, Webb, Michael E, Harrison, Michael, Lippiat, Jonathan D, Ponnambalam, Sreenivasan, Peckham, Michelle, Smith, Alastair, Ferrigno, Paul Ko, Johnson, Matt, McPherson, Michael J, Tomlinson, Darren Charles
Publicado 2017

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

por Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan
Publicado 2021

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

por Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., Akizu, Naiara
Publicado 2023

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas...

por Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry
Publicado 2022

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

por Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina
Publicado 2023

New species of the genera Bracon Fabricius and Syntomernus Enderlein (Hymenoptera, Braconidae, Braconinae) from South Korea

por Samartsev, Konstantin, Ku, Deok-Seo
Publicado 2020

Protein engineering expands the effector recognition profile of a rice NLR immune receptor

por De la Concepcion, Juan Carlos, Franceschetti, Marina, MacLean, Dan, Terauchi, Ryohei, Kamoun, Sophien, Banfield, Mark J
Publicado 2019

Anterolateral thigh adipofascial flap combined with skin paddle in three-dimension scalp reconstruction: A case report

por Dung, Vu Thi, Dung, Pham Thi Viet, Anh, Hoang Tuan, Nhan, Nguyen Hop, Vu, Nguyen, Nha, Le Kim
Publicado 2023