Auflistung 4 Medizinische Fakultät nach Autor "Rad, Aboulfazl"

DSpace Repositorium (Manakin basiert)

Auflistung 4 Medizinische Fakultät nach Autor "Rad, Aboulfazl"

Sortiert nach: Sortierung: Ergebnisse:

  • A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
    Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A.; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T.; Vitry, Sandrine; Rad, Aboulfazl; Rueschendorf, Franz; Varshney, Pratishtha; Fowler, Ben; Beetz, Christian; Alagramam, Kumar N.; Murphy, David; Shariati, Gholamreza; Sedaghat, Alireza; Houlden, Henry; Petree, Cassidy; VijayKumar, Shruthi; Smith, Richard J. H.; Haaf, Thomas; El-Amraoui, Aziz; Bowl, Michael R.; Varshney, Gaurav K.; Galehdari, Hamid (2021)
  • Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
    Rad, Aboulfazl; Schade-Mann, Thore; Gamerdinger, Philipp; Yanus, Grigoriy A.; Schulte, Bjoern; Mueller, Marcus; Imyanitov, Evgeny N.; Biskup, Saskia; Loewenheim, Hubert; Tropitzsch, Anke; Vona, Barbara (2021)
  • Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
    Ziegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna (2021)
  • Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
    van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry (2022)
  • Biallelic loss of EMC10 leads to mild to severe intellectual disability
    Kaiyrzhanov, Rauan; Rocca, Clarissa; Suri, Mohnish; Gulieva, Sughra; Zaki, Maha S.; Henig, Noa Z.; Siquier, Karine; Guliyeva, Ulviyya; Mounir, Samir M.; Marom, Daphna; Allahverdiyeva, Aynur; Megahed, Hisham; van Bokhoven, Hans; Cantagrel, Vincent; Rad, Aboulfazl; Pourkeramti, Alemeh; Dehghani, Boshra; Shao, Diane D.; Markus-Bustani, Keren; Sofrin-Drucker, Efrat; Orenstein, Naama; Salayev, Kamran; Arrigoni, Filippo; Houlden, Henry; Maroofian, Reza (2022)
  • Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
    Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernandez, Hector Adrian Diaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K. (2021)
  • Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
    Lin, Sheng-Jia; Vona, Barbara; Lau, Tracy; Huang, Kevin; Zaki, Maha S.; Aldeen, Huda Shujaa; Karimiani, Ehsan Ghayoor; Rocca, Clarissa; Noureldeen, Mahmoud M.; Saad, Ahmed K.; Petree, Cassidy; Bartolomaeus, Tobias; Abou Jamra, Rami; Zifarelli, Giovanni; Gotkhindikar, Aditi; Wentzensen, Ingrid M.; Liao, Mingjuan; Cork, Emalyn Elise; Varshney, Pratishtha; Hashemi, Narges; Mohammadi, Mohammad Hasan; Rad, Aboulfazl; Neira, Juanita; Toosi, Mehran Beiraghi; Knopp, Cordula; Kurth, Ingo; Challman, Thomas D.; Smith, Rebecca; Abdalla, Asmahan; Haaf, Thomas; Suri, Mohnish; Joshi, Manali; Chung, Wendy K.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza; Varshney, Gaurav K. (2023)
  • Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy
    Efthymiou, Stephanie; Dutra-Clarke, Marina; Maroofian, Reza; Kaiyrzhanov, Rauan; Scala, Marcello; Alvi, Javeria Reza; Sultan, Tipu; Christoforou, Marilena; Nguyen, Thi Tuyet Mai; Mankad, Kshitij; Vona, Barbara; Rad, Aboulfazl; Striano, Pasquale; Salpietro, Vincenzo; Sacoto, Maria J. Guillen; Zaki, Maha S.; Gleeson, Joseph G.; Campeau, Philippe M.; Russell, Bianca E.; Houlden, Henry (2021)
  • Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
    Rad, Aboulfazl; Najafi, Maryam; Suri, Fatemeh; Abedini, Soheila; Loum, Stephen; Karimiani, Ehsan Ghayoor; Daftarian, Narsis; Murphy, David; Doosti, Mohammad; Moghaddasi, Afrooz; Ahmadieh, Hamid; Sabbaghi, Hamideh; Rajati, Mohsen; Hashemi, Narges; Vona, Barbara; Schmidts, Miriam (2022)
  • The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
    Vona, Barbara; Rad, Aboulfazl; Reisinger, Ellen (2020)
  • Unraveling haplotype errors in the DFNA33 locus
    Vona, Barbara; Regele, Sabrina; Rad, Aboulfazl; Strenzke, Nicola; Pater, Justin A.; Neumann, Katrin; Sturm, Marc; Haack, Tobias B.; Zehnhoff-Dinnesen, Antoinette G. Am (2023)
  • Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
    Bahena, Paulina; Daftarian, Narsis; Maroofian, Reza; Linares, Paola; Villalobos, Daniel; Mirrahimi, Mehraban; Rad, Aboulfazl; Doll, Julia; Hofrichter, Michaela A. H.; Koparir, Asuman; Roeder, Tabea; Han, Seungbin; Sabbaghi, Hamideh; Ahmadieh, Hamid; Behboudi, Hassan; Villanueva-Mendoza, Cristina; Cortes-Gonzalez, Vianney; Zamora-Ortiz, Rocio; Kohl, Susanne; Kuehlewein, Laura; Darvish, Hossein; Alehabib, Elham; De la Luz Arenas-Sordo, Maria; Suri, Fatemeh; Vona, Barbara; Haaf, Thomas (2022)