The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

द्वारा Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra
में प्रकाशित Mol Genet Genomic Med (2019)

Diffuse hypomyelination is not obligate for POLR3-related disorders

द्वारा La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
में प्रकाशित Neurology (2016)

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

द्वारा Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline
में प्रकाशित Neurogenetics (2017)

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

द्वारा Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève
में प्रकाशित Neurol Genet (2019)

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

द्वारा Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève
में प्रकाशित J Clin Endocrinol Metab (2020)