Sortiert nach
Seizure (London, England), 2022-04, Vol.97, p.20-22
2022
Link zum Volltext
Brain & development (Tokyo. 1979), 2023-11, Vol.45 (10), p.588-596
2023
Link zum Volltext
Genes, 2023-11, Vol.14 (12), p.2111
2023
Link zum Volltext
Pediatric neurology, 2023-12, Vol.149, p.84-92
- Scorrano, Giovanna
- D'Onofrio, Gianluca
- Accogli, Andrea
- Severino, Mariasavina
- Buchert, Rebecca
- Kotzaeridou, Urania
- Iapadre, Giulia
- Farello, Giovanni
- Iacomino, Michele
- Dono, Fedele
- Di Francesco, Ludovica
- Fiorile, Maria Francesca
- La Bella, Saverio
- Corsello, Antonio
- Calì, Elisa
- Di Rosa, Gabriella
- Gitto, Eloisa
- Verrotti, Alberto
- Fortuna, Sara
- Soler, Miguel A.
- Chiarelli, Francesco
- Oehl-Jaschkowitz, Barbara
- Haack, Tobias B.
- Zara, Federico
- Striano, Pasquale
- Salpietro, Vincenzo
2023
Link zum Volltext
Brain sciences, 2021-08, Vol.11 (9), p.1150
- Casto, Celeste
- Dipasquale, Valeria
- Ceravolo, Ida
- Gambadauro, Antonella
- Aliberto, Emanuela
- Galletta, Karol
- Granata, Francesca
- Ceravolo, Giorgia
- Falzia, Emanuela
- Riva, Antonella
- Piccolo, Gianluca
- Cutrupi, Maria Concetta
- Striano, Pasquale
- Accogli, Andrea
- Zara, Federico
- Di Rosa, Gabriella
- Gitto, Eloisa
- Calì, Elisa
- Efthymiou, Stephanie
- Salpietro, Vincenzo
- Houlden, Henry
- Chimenz, Roberto
2021
Link zum Volltext
Cerebellum (London, England), 2023-04, Vol.22 (2), p.206-222
- Accogli, Andrea
- Lu, Shenzhao
- Musante, Ilaria
- Scudieri, Paolo
- Rosenfeld, Jill A.
- Severino, Mariasavina
- Baldassari, Simona
- Iacomino, Michele
- Riva, Antonella
- Balagura, Ganna
- Piccolo, Gianluca
- Minetti, Carlo
- Roberto, Denis
- Xia, Fan
- Razak, Razaali
- Lawrence, Emily
- Hussein, Mohamed
- Chang, Emmanuel Yih-Herng
- Holick, Michelle
- Calì, Elisa
- Aliberto, Emanuela
- De-Sarro, Rosalba
- Gambardella, Antonio
- Network, Undiagnosed Diseases
- Group, SYNaPS Study
- Emrick, Lisa
- McCaffery, Peter J. A.
- Clagett-Dame, Margaret
- Marcogliese, Paul C.
- Bellen, Hugo J.
- Lalani, Seema R.
- Zara, Federico
- Striano, Pasquale
- Salpietro, Vincenzo
2023
Link zum Volltext
Genetics in Medicine Open, 2023, Vol.1 (1), p.100162, Article 100162
2023
Link zum Volltext
Genetics in Medicine Open, 2023, Vol.1 (1), p.100164, Article 100164
2023
Link zum Volltext
Genetics in Medicine Open, 2023, Vol.1 (1), p.100163, Article 100163
2023
Link zum Volltext
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
- Borgia, Paola
- Baldassari, Simona
- Pedemonte, Nicoletta
- Alkhunaizi, Ebba
- D'Onofrio, Gianluca
- Tortora, Domenico
- Calì, Elisa
- Scudieri, Paolo
- Balagura, Ganna
- Musante, Ilaria
- Diana, Maria Cristina
- Pedemonte, Marina
- Vari, Maria Stella
- Iacomino, Michele
- Riva, Antonella
- Chimenz, Roberto
- Mangano, Giuseppe D
- Mohammadi, Mohammad Hasan
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Karimiani, Ehsan Ghayoor
- Accogli, Andrea
- Schiaffino, Maria Cristina
- Maghnie, Mohamad
- Soler, Miguel Angel
- Echiverri, Karl
- Abrams, Charles K
- Striano, Pasquale
- Fortuna, Sara
- Maroofian, Reza
- Houlden, Henry
- Zara, Federico
- Fiorillo, Chiara
- Salpietro, Vincenzo
2022
Link zum Volltext
Frontiers in neurology, 2022-01, Vol.12, p.806506-806506
2022
Link zum Volltext
Brain & development (Tokyo. 1979), 2022-08, Vol.44 (7), p.469-473
2022
Link zum Volltext
Brain (London, England : 1878), 2023-05, Vol.146 (5), p.2003-2015
- Saffari, Afshin
- Kellner, Melanie
- Jordan, Catherine
- Rosengarten, Helena
- Mo, Alisa
- Zhang, Bo
- Strelko, Oleksandr
- Neuser, Sonja
- Davis, Marie Y
- Yoshikura, Nobuaki
- Futamura, Naonobu
- Takeuchi, Tomoya
- Nabatame, Shin
- Ishiura, Hiroyuki
- Tsuji, Shoji
- Aldeen, Huda Shujaa
- Cali, Elisa
- Rocca, Clarissa
- Houlden, Henry
- Efthymiou, Stephanie
- Assmann, Birgit
- Yoon, Grace
- Trombetta, Bianca A
- Kivisäkk, Pia
- Eichler, Florian
- Nan, Haitian
- Takiyama, Yoshihisa
- Tessa, Alessandra
- Santorelli, Filippo M
- Sahin, Mustafa
- Blackstone, Craig
- Yang, Edward
- Schüle, Rebecca
- Ebrahimi-Fakhari, Darius
2023
Link zum Volltext
Genes, 2023-07, Vol.14 (7), p.1404
2023
Link zum Volltext
Annals of neurology, 2021-03, Vol.89 (3), p.633-635
2021
Link zum Volltext
Journal of neurology, neurosurgery and psychiatry, 2024-03, Vol.95 (3), p.290
2024
Link zum Volltext
Journal of neurology, 2023-12, Vol.270 (12), p.5784-5792
- Alkhalifa, Abdulrahman
- Chen, Shihan
- Hasiloglu, Zehra Isik
- Filosto, Massimiliano
- Cali, Elisa
- Houlden, Henry
- Sgobbi de Souza, Paulo
- Alavi, Afagh
- Goizet, Cyril
- Stevanin, Giovanni
- Taithe, Frederic
- Nicita, Francesco
- Vasco, Gessica
- Tozza, Stefano
- Cocozza, Sirio
- Carboni, Nicola
- Figus, Andrea
- Wu, Jianjun
- Basak, A. Nazli
- Brais, Bernard
- Rouleau, Guy
- La Piana, Roberta
2023
Link zum Volltext
American journal of human genetics, 2024-01, Vol.111 (1), p.200-210
- Salpietro, Vincenzo
- Maroofian, Reza
- Wangen, Jamie
- Ciolfi, Andrea
- Barresi, Sabina
- Efthymiou, Stephanie
- Aughey, Gabriel N.
- Al Mutairi, Fuad
- Accogli, Andrea
- Zara, Federico
- Tariq, Huma
- Rehman, Khalil Ur
- Abd Elmaksoud, Marwa
- El Said, Huda G.
- Al Shalan, Maha
- Khang, Rin
- Elbendary, Hasnaa M.
- Marinakis, Nikolaos M.
- Traeger-Synodinos, Joanne
- Ververi, Athina
- Sourmpi, Mara
- Khadivi Zand, Farhad
- Beiraghi Toosi, Mehran
- Hannah, Michael G.
- Bertini, Enrico
- Aguennouz, Mhammed
- Groppa, Stanislav
- Kathom, Hadil
- Tincheva, Radka
- Verrotti, Alberto
- Macaya, Alfons
- Garavaglia, Barbara
- Cortese, Andrea
- Sullivan, Roisin
- Papanicolaou, Eleni Z.
- Dardiotis, Efthymios
- Maqbool, Shazia
- Ibrahim, Shahnaz
- Rana, Nuzhat N.
- Atawneh, Osama
- Zuccotti, Gian V.
- Marseglia, Gian L.
- Shaikh, Farooq
- Corsello, Giovanni
- Mangano, Salvatore
- Koutsis, George
- Scuderi, Carmela
- Ferrara, Pietro
- Zollo, Massimo
- Berni-Canani, Roberto
- Sisto, Antonio
- Strano, Federica
- Di Francesco, Ludovica
- Salayev, Kamran
- Xiromerisiou, Georgia
- Munell, Francina
- Gagliano, Antonella
- Jan, Farida
- Chimenz, Roberto
- Di Rosa, Gabriella
- Pettoello-Mantovani, Massimo
- Tazir, Meriem
- Farello, Giovanni
- Delvecchio, Maurizio
- Di-Donato, Giulio
- Obeid, Makram
- Saadi, Nebal W.
- Maccarone, Rita
- Kara, Majdi
- Karimiani, Ehsan G.
- Seri, Marco
- Di-Falco, Giovanna
- Barrano, Giuseppe
- Operto, Francesca F.
- Valenzise, Mariella
- Matricardi, Sara
- Zafar, Faisal
- Ullah, Ehsan
- Afzal, Erum
- Rahman, Fatima
- De Filippo, Maria
- Licari, Amelia
- Trebbi, Edoardo
- Romano, Ferdinando
- Heimer, Gali
- Al-Khawaja, Issam
- Al-Mutairi, Fuad
- Shashkin, Chingiz
- Koneyev, Kairgali
- Pagnamenta, Alistair T.
- Corsello, Antonio
- Dallapiccola, Bruno
- Alobeid, Eman
- Mankad, Kshitij
- Ghayoor-Karimiani, Ehsan
- Chung, Wendy K.
- Green, Rachel
- Alkuraya, Fowzan S.
- Jepson, James E.C.
- Houlden, Henry
2024
Link zum Volltext
Brain (London, England : 1878), 2022-06, Vol.145 (6), p.1916-1923
- Klöckner, Chiara
- Murray, J Pedro Fernandez
- Tavasoli, Mahtab
- Sticht, Heinrich
- Stoltenburg-Didinger, Gisela
- Scholle, Leila Motlagh
- Bakhtiari, Somayeh
- Kruer, Michael C
- Darvish, Hossein
- Firouzabadi, Saghar Ghasemi
- Pagnozzi, Alex
- Shukla, Anju
- Girisha, Katta Mohan
- Narayanan, Dhanya Lakshmi
- Kaur, Parneet
- Maroofian, Reza
- Zaki, Maha S
- Noureldeen, Mahmoud M
- Merkenschlager, Andreas
- Gburek-Augustat, Janina
- Cali, Elisa
- Banu, Selina
- Nahar, Kamrun
- Efthymiou, Stephanie
- Houlden, Henry
- Jamra, Rami Abou
- Williams, Jason
- McMaster, Christopher R
- Platzer, Konrad
2022
Link zum Volltext
Genetics in medicine, 2023-10, Vol.25 (10), p.100961, Article 100961
- Park, Joohyun
- Tucci, Arianna
- Cipriani, Valentina
- Demidov, German
- Rocca, Clarissa
- Senderek, Jan
- Butryn, Michaela
- Velic, Ana
- Lam, Tanya
- Galanaki, Evangelia
- Cali, Elisa
- Vestito, Letizia
- Maroofian, Reza
- Deininger, Natalie
- Rautenberg, Maren
- Admard, Jakob
- Hahn, Gesa-Astrid
- Bartels, Claudius
- van Os, Nienke J.H.
- Horvath, Rita
- Chinnery, Patrick F.
- Tiet, May Yung
- Hewamadduma, Channa
- Hadjivassiliou, Marios
- Downes, Susan M.
- Németh, Andrea H.
- Tofaris, George K.
- Wood, Nicholas W.
- Hayer, Stefanie N.
- Bender, Friedemann
- Menden, Benita
- Cordts, Isabell
- Klein, Katrin
- Nguyen, Huu Phuc
- Krauss, Joachim K.
- Blahak, Christian
- Strom, Tim M.
- Sturm, Marc
- van de Warrenburg, Bart
- Lerche, Holger
- Maček, Boris
- Synofzik, Matthis
- Ossowski, Stephan
- Timmann, Dagmar
- Wolf, Marc E.
- Smedley, Damian
- Riess, Olaf
- Schöls, Ludger
- Houlden, Henry
- Haack, Tobias B.
- Hengel, Holger
2023
Link zum Volltext
Brain (London, England : 1878), 2021-11, Vol.144 (10), p.e85-e85
- Medico Salsench, Eva
- Maroofian, Reza
- Deng, Ruizhi
- Lanko, Kristina
- Nikoncuk, Anita
- Pérez, Belén
- Sánchez-Lijarcio, Obdulia
- Ibáñez-Mico, Salvador
- Wojcik, Antonina
- Vargas, Marcelo
- Abbas Al-Sannaa, Nouriya
- Girgis, Marian Y
- Silveira, Tainá Regina Damaceno
- Bauer, Peter
- Schroeder, Audrey
- Fong, Chin-To
- Begtrup, Amber
- Babaei, Meisam
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Doosti, Mohammad
- Ahangari, Najmeh
- Najarzadeh Torbati, Paria
- Ghayoor Karimiani, Ehsan
- Murphy, David
- Cali, Elisa
- Kaya, Ibrahim H
- AlMuhaizea, Mohammad
- Colak, Dilek
- Cardona-Londoño, Kelly J
- Arold, Stefan T
- Houlden, Henry
- Bertoli-Avella, Aida
- Kaya, Namik
- Barakat, Tahsin Stefan
2021
Link zum Volltext
Genetics in medicine, 2023-01, Vol.25 (1), p.135-142
- Cali, Elisa
- Suri, Mohnish
- Scala, Marcello
- Ferla, Matteo P.
- Alavi, Shahryar
- Faqeih, Eissa Ali
- Bijlsma, Emilia K.
- Wigby, Kristen M.
- Baralle, Diana
- Mehrjardi, Mohammad Y.V.
- Schwab, Jennifer
- Platzer, Konrad
- Steindl, Katharina
- Hashem, Mais
- Jones, Marilyn
- Niyazov, Dmitriy M.
- Jacober, Jennifer
- Littlejohn, Rebecca Okashah
- Weis, Denisa
- Zadeh, Neda
- Rodan, Lance
- Goldenberg, Alice
- Lecoquierre, François
- Dutra-Clarke, Marina
- Horvath, Gabriella
- Young, Dana
- Orenstein, Naama
- Bawazeer, Shahad
- Vulto-van Silfhout, Anneke T.
- Herenger, Yvan
- Dehghani, Mohammadreza
- Seyedhassani, Seyed Mohammad
- Bahreini, Amir
- Nasab, Mahya E.
- Ercan-Sencicek, A. Gulhan
- Firoozfar, Zahra
- Movahedinia, Mojtaba
- Efthymiou, Stephanie
- Striano, Pasquale
- Karimiani, Ehsan Ghayoor
- Salpietro, Vincenzo
- Taylor, Jenny C.
- Redman, Melody
- Stegmann, Alexander P.A.
- Laner, Andreas
- Abdel-Salam, Ghada
- Li, Megan
- Bengala, Mario
- Müller, Amelie Johanna
- Digilio, Maria C.
- Rauch, Anita
- Gunel, Murat
- Titheradge, Hannah
- Schweitzer, Daniela N.
- Kraus, Alison
- Valenzuela, Irene
- McLean, Scott D.
- Phornphutkul, Chanika
- Salih, Mustafa
- Begtrup, Amber
- Schnur, Rhonda E.
- Torti, Erin
- Haack, Tobias B.
- Prada, Carlos E.
- Alkuraya, Fowzan S.
- Houlden, Henry
- Maroofian, Reza
2023
Link zum Volltext
Movement disorders clinical practice (Hoboken, N.J.), 2022-02, Vol.9 (2), p.218-228
- Magrinelli, Francesca
- Cali, Elisa
- Braga, Vinícius Lopes
- Yis, Uluç
- Tomoum, Hoda
- Shamseldin, Hanan
- Raiman, Julian
- Kernstock, Christoph
- Rezende Filho, Flávio Moura
- Barsottini, Orlando Graziani Povoas
- Taylor, Robert W.
- Østergaard, Elsebet
- Tamim, Abdullah
- Schäferhoff, Karin
- Sallum, Juliana Maria Ferraz
- Zaki, Maha S.
- Kok, Fernando
- Bhatia, Kailash P.
- Wissinger, Bernd
- Sergeant, Kate
- Haack, Tobias B.
- Horvath, Rita
- Hiz, Semra
- Alkuraya, Fowzan S.
- Houlden, Henry
- Pedroso, José Luiz
- Maroofian, Reza
2022
Link zum Volltext
Brain communications, 2024, Vol.6 (1), p.fcad273-fcad273
- Nóbrega, Paulo R
- R B de Paiva, Anderson
- Souza, Katiane S
- de Souza, Jorge Luiz B
- G S B Lima, Pedro Lucas
- da Silva, Delson José
- Pitombeira, Milena Sales
- Borges, Viviennee K
- Dias, Daniel A
- Bispo, Luciana M
- Santos, Carolina F
- Freua, Fernando
- Silva, Paulo Diego S
- Alves, Isabela S
- Portella, Leonardo B
- Cunha, Paulina R
- Salomao, Rubens Paulo A
- Pedroso, José Luiz
- Miyajima, Veridiana P
- Miyajima, Fábio
- Cali, Elisa
- Wade, Charles
- Sudarsanam, Annapurna
- O'Driscoll, Mary
- Hayton, Tom
- Barsottini, Orlando G P
- Klebe, Stephan
- Kok, Fernando
- Lucato, Leandro Tavares
- Houlden, Henry
- Depienne, Christel
- Lynch, David S
- Braga-Neto, Pedro
2024
Link zum Volltext
Brain & development, 2023, Vol.45 (10), p.588-596
2023
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- Ingenta
- EZB Electronic Journals Library
- MEDLINE
- Journals@Ovid Ovid Full Text
- Access via ScienceDirect (Elsevier)
- IngentaConnect Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Springer journals
- Publisher or Other Site
- Wiley Online Library Journals
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Oxford Journals
- Oxford Journals 2020 Medicine
- Wiley Online Library Full Collection 2018
- Nature International Weekly Journal of Science
- SpringerLink Series
- ERIC
- British Medical Journals Online Archive (BMJ)
- BMJ Journals Archiv - DFG Nationallizenzen
Zeitschrift / Serie
Neu hinzugefügt