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Genetics in Medicine Open, 2023, Vol.1 (1), p.100162, Article 100162
2023
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100164, Article 100164
2023
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100163, Article 100163
2023
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Frontiers in neurology, 2022-01, Vol.12, p.806506-806506
2022
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Brain & development (Tokyo. 1979), 2022-08, Vol.44 (7), p.469-473
2022
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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
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
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Genes, 2023-07, Vol.14 (7), p.1404
2023
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Seizure (London, England), 2022-04, Vol.97, p.20-22
2022
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Genes, 2023-11, Vol.14 (12), p.2111
2023
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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
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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
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Annals of neurology, 2021-03, Vol.89 (3), p.633-635
2021
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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
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Journal of neurology, neurosurgery and psychiatry, 2023-09, Vol.95 (3), p.290
2023
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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
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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
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Genetics in medicine, 2023-10, Vol.25 (10), p.100961-100961, 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 & development (Tokyo. 1979), 2023-11, Vol.45 (10), p.588-596
2023
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Brain & development, 2023, Vol.45 (10), p.588-596
2023
Link zum Volltext
Catheterization and cardiovascular interventions, 2023-07, Vol.102 (1), p.138-144
2023
Link zum Volltext
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