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Pediatric neurology, 2024-09, Vol.158, p.1-10
2024
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Nature communications, 2024-07, Vol.15 (1), p.6327-15, Article 6327
- Cortese, Andrea
- Beecroft, Sarah J.
- Facchini, Stefano
- Curro, Riccardo
- Cabrera-Serrano, Macarena
- Stevanovski, Igor
- Chintalaphani, Sanjog R.
- Gamaarachchi, Hasindu
- Weisburd, Ben
- Folland, Chiara
- Monahan, Gavin
- Scriba, Carolin K.
- Dofash, Lein
- Johari, Mridul
- Grosz, Bianca R.
- Ellis, Melina
- Fearnley, Liam G.
- Tankard, Rick
- Read, Justin
- Merve, Ashirwad
- Dominik, Natalia
- Vegezzi, Elisa
- Schnekenberg, Ricardo P.
- Fernandez-Eulate, Gorka
- Masingue, Marion
- Giovannini, Diane
- Delatycki, Martin B.
- Storey, Elsdon
- Gardner, Mac
- Amor, David J.
- Nicholson, Garth
- Vucic, Steve
- Henderson, Robert D.
- Robertson, Thomas
- Dyke, Jason
- Fabian, Vicki
- Mastaglia, Frank
- Davis, Mark R.
- Kennerson, Marina
- Oflazer, Piraye
- Başak, Nazli A.
- Kayserili, Hülya
- Yeşil, Gözde
- Malfatti, Edoardo
- Lilliker, James B.
- Wicklund, Matthew
- Pitceathly, Robert D. S.
- Brady, Stefen
- Brais, Bernard
- Pellerin, David
- Zuchner, Stephan
- Danzi, Matt C.
- Grandis, Marina
- Comi, Giacomo P.
- Corti, Stefania P.
- Abati, Elena
- Toscano, Antonio
- Manini, Arianna
- Ghia, Arianna
- Tassorelli, Cristina
- Quartesan, Ilaria
- Simone, Roberto
- Rossor, Alexander M.
- Reilly, Mary M.
- Carroll, Liam
- Straub, Volker
- Udd, Bjarne
- Chen, Zhiyong
- Bonne, Gisèle
- Quinlivan, Ros
- Hammans, Simon
- Tucci, Arianna
- Bahlo, Melanie
- McLean, Catriona A.
- Laing, Nigel G.
- Stojkovic, Tanya
- Houlden, Henry
- Hanna, Michael G.
- Deveson, Ira W.
- Lockhart, Paul J.
- Lamont, Phillipa J.
- Fahey, Michael C.
- Bugiardini, Enrico
- Ravenscroft, Gianina
2024
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ChemPlusChem (Weinheim, Germany), 2024-07, Vol.89 (7), p.e202400131-n/a
2024
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Movement disorders, 2024-06, Vol.39 (6), p.983-995
- Kaiyrzhanov, Rauan
- Ortigoza‐Escobar, Juan Darío
- Stringer, Brett W.
- Ganieva, Manizha
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Macaya, Alfons
- Laner, Andreas
- Onbool, Enas
- Al‐Shammari, Randa
- Al‐Owain, Mohammed
- Deconinck, Nicolas
- Vilain, Catheline
- Dontaine, Pauline
- Self, Eleanor
- Akram, Rabia
- Hussain, Ghulam
- Baig, Shahid Mahmood
- Iqbal, Javed
- Salpietro, Vincenzo
- Neshatdoust, Maedeh
- Kasiri, Mahboubeh
- Yesil, Gozde
- Uygur, Turkan
- Pysden, Karen
- Berry, Ian R.
- Alves, Cesar Augusto
- Giacomotto, Jean
- Houlden, Henry
- Maroofian, Reza
2024
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Clinical genetics, 2024-06, Vol.105 (6), p.596-610
2024
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Journal of pediatric hematology/oncology, 2024-04, Vol.46 (3), p.e214
2024
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Nucleic acids research, 2024-02, Vol.52 (4), p.e18
2024
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Brain (London, England : 1878), 2024-01, Vol.147 (1), p.311-324
- Almousa, Hashem
- Lewis, Sara A
- Bakhtiari, Somayeh
- Nordlie, Sandra Hinz
- Pagnozzi, Alex
- Magee, Helen
- Efthymiou, Stephanie
- Heim, Jennifer A
- Cornejo, Patricia
- Zaki, Maha S
- Anwar, Najwa
- Maqbool, Shazia
- Rahman, Fatima
- Neilson, Derek E
- Vemuri, Anusha
- Jin, Sheng Chih
- Yang, Xiao-Ru
- Heidari, Abolfazl
- van Gassen, Koen
- Trimouille, Aurélien
- Thauvin-Robinet, Christel
- Liu, James
- Bruel, Ange-Line
- Tomoum, Hoda
- Shata, Mennatallah O
- Hashem, Mais O
- Toosi, Mehran Beiraghi
- Karimiani, Ehsan Ghayoor
- Yeşil, Gözde
- Lingappa, Lokesh
- Baruah, Debangana
- Ebrahimzadeh, Farnoosh
- Van-Gils, Julien
- Faivre, Laurence
- Zamani, Mina
- Galehdari, Hamid
- Sadeghian, Saeid
- Shariati, Gholamreza
- Mohammad, Rahema
- van der Smagt, Jasper
- Qari, Alya
- Vincent, John B
- Innes, A Micheil
- Dursun, Ali
- Özgül, R Köksal
- Akar, Halil Tuna
- Bilguvar, Kaya
- Mignot, Cyril
- Keren, Boris
- Raveli, Claudia
- Burglen, Lydie
- Afenjar, Alexandra
- Kaat, Laura Donker
- van Slegtenhorst, Marjon
- Alkuraya, Fowzan
- Houlden, Henry
- Padilla-Lopez, Sergio
- Maroofian, Reza
- Sacher, Michael
- Kruer, Michael C
2024
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Hormone research in paediatrics, 2024, Vol.97 (2), p.157
2024
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Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5031-5043
- 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
2023
Volltextzugriff (PDF)
Archives of Epilepsy, 2023-12, Vol.29 (4), p.121-125
2023
Volltextzugriff (PDF)
Annals of anatomy, 2023-10, Vol.250, p.152143-152143, Article 152143
2023
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Journal of photochemistry and photobiology. A, Chemistry., 2023-07, Vol.441, p.114705, Article 114705
2023
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International journal of neuroscience, 2023-06, Vol.ahead-of-print (ahead-of-print), p.1-6
2023
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European archives of oto-rhino-laryngology, 2023-05, Vol.280 (5), p.2471-2478
2023
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Molecular syndromology, 2023-04, Vol.14 (2), p.175-180
2023
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Molecular syndromology, 2023, Vol.14 (2), p.175-180
2023
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İstanbul Tıp Fakültesi dergisi = Journal of the Istanbul Faculty of Medicine, 2023-03, Vol.86 (1), p.1
2023
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Journal of clinical research in pediatric endocrinology, 2023-02
2023
Volltextzugriff (PDF)
The Journal of experimental medicine, 2023-02, Vol.220 (2)
- Lévy, Romain
- Gothe, Florian
- Momenilandi, Mana
- Magg, Thomas
- Materna, Marie
- Peters, Philipp
- Raedler, Johannes
- Philippot, Quentin
- Rack-Hoch, Anita Lena
- Langlais, David
- Bourgey, Mathieu
- Lanz, Anna-Lisa
- Ogishi, Masato
- Rosain, Jérémie
- Martin, Emmanuel
- Latour, Sylvain
- Vladikine, Natasha
- Distefano, Marco
- Khan, Taushif
- Rapaport, Franck
- Schulz, Marian
- Holzer, Ursula
- Fasth, Anders
- Sogkas, Georgios
- Speckmann, Carsten
- Troilo, Arianna
- Bigley, Venetia
- Roppelt, Anna
- Dinur-Schejter, Yael
- Toker, Ori
- Bronken Martinsen, Karen Helene
- Sherkat, Roya
- Somekh, Ido
- Somech, Raz
- Shouval, Dror
- Kühl, Jörn-Sven
- Ip, Winnie
- Mcdermott, Elizabeth
- Cliffe, Lucy
- Ozen, Ahmet
- Baris, Safa
- Rangarajan, Hemalatha
- Jouanguy, Emmanuelle
- Puel, Anne
- Bustamante, Jacinta
- Alyanakian, Marie-Alexandra
- Fusaro, Mathieu
- Wang, Yi
- Kong, Xiao-Fei
- Cobat, Aurélie
- Boutboul, David
- Castelle, Martin
- Aguilar, Claire
- Hermine, Olivier
- Cheminant, Morgane
- Suarez, Felipe
- Yildiran, Alisan
- Bousfiha, Aziz
- Al-Mousa, Hamoud
- Alsohime, Fahad
- Cagdas, Deniz
- Abraham, Roshini
- Knutsen, Alan
- Fevang, Borre
- Bhattad, Sagar
- Kiykim, Ayca
- Erman, Baran
- Arikoglu, Tugba
- Unal, Ekrem
- Kumar, Ashish
- Geier, Christoph
- Baumann, Ulrich
- Neven, Bénédicte
- Calas, Julie
- Feuille, Elizabeth
- Chan, Angela
- Yesil, Gozde
- Nammour, Justine
- Bandet, Élise
- Picard, Capucine
- Benhsaien, Ibtihal
- Lang, Peter
- Atschekzei, Faranaz
- Warnatz, Klaus
- Hambleton, Sophie
- Desai, Mukesh
- Karakoc-Aydiner, Elif
- Kolukisa, Burcu
- Al-Muhsen, Saleh
- Alosaimi, Mohammed
- Cipe, Funda
- Alazami, Anas
- Hancioglu, Gonca
- Can Meydan, Bilge
- Sorte, Hanne
- Stray-Pedersen, Asbjørg
- Mammayil, Geetha
- Tökmeci, Nazan
- Shcherbina, Anna
- Stepensky, Polina
2023
Volltextzugriff (PDF)
The Journal of experimental medicine, 2023-02, Vol.220 (2)
- Lévy, Romain
- Gothe, Florian
- Momenilandi, Mana
- Magg, Thomas
- Materna, Marie
- Peters, Philipp
- Raedler, Johannes
- Philippot, Quentin
- Rack-Hoch, Anita Lena
- Langlais, David
- Bourgey, Mathieu
- Lanz, Anna-Lisa
- Ogishi, Masato
- Rosain, Jérémie
- Martin, Emmanuel
- Latour, Sylvain
- Vladikine, Natasha
- Distefano, Marco
- Khan, Taushif
- Rapaport, Franck
- Schulz, Marian S
- Holzer, Ursula
- Fasth, Anders
- Sogkas, Georgios
- Speckmann, Carsten
- Troilo, Arianna
- Bigley, Venetia
- Roppelt, Anna
- Dinur-Schejter, Yael
- Toker, Ori
- Bronken Martinsen, Karen Helene
- Sherkat, Roya
- Somekh, Ido
- Somech, Raz
- Shouval, Dror S
- Kühl, Jörn-Sven
- Ip, Winnie
- McDermott, Elizabeth M
- Cliffe, Lucy
- Ozen, Ahmet
- Baris, Safa
- Rangarajan, Hemalatha G
- Jouanguy, Emmanuelle
- Puel, Anne
- Bustamante, Jacinta
- Alyanakian, Marie-Alexandra
- Fusaro, Mathieu
- Wang, Yi
- Kong, Xiao-Fei
- Cobat, Aurélie
- Boutboul, David
- Castelle, Martin
- Aguilar, Claire
- Hermine, Olivier
- Cheminant, Morgane
- Suarez, Felipe
- Yildiran, Alisan
- Bousfiha, Aziz
- Al-Mousa, Hamoud
- Alsohime, Fahad
- Cagdas, Deniz
- Abraham, Roshini S
- Knutsen, Alan P
- Fevang, Borre
- Bhattad, Sagar
- Kiykim, Ayca
- Erman, Baran
- Arikoglu, Tugba
- Unal, Ekrem
- Kumar, Ashish
- Geier, Christoph B
- Baumann, Ulrich
- Neven, Bénédicte
- Rohlfs, Meino
- Walz, Christoph
- Abel, Laurent
- Malissen, Bernard
- Marr, Nico
- Klein, Christoph
- Casanova, Jean-Laurent
- Hauck, Fabian
- Béziat, Vivien
2023
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Nucleosides, nucleotides & nucleic acids, 2023, Vol.42 (8), p.571-585
2023
Volltextzugriff (PDF)
Genetics in medicine, 2023-01, Vol.25 (1), p.90-102
- Saida, Ken
- Maroofian, Reza
- Sengoku, Toru
- Mitani, Tadahiro
- Pagnamenta, Alistair T.
- Marafi, Dana
- Zaki, Maha S.
- O’Brien, Thomas J.
- Karimiani, Ehsan Ghayoor
- Kaiyrzhanov, Rauan
- Takizawa, Marina
- Ohori, Sachiko
- Leong, Huey Yin
- Akay, Gulsen
- Galehdari, Hamid
- Zamani, Mina
- Romy, Ratna
- Carroll, Christopher J.
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Malek, Hadis
- Ahangari, Najmeh
- Tomoum, Hoda
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Murphy, David
- Dominik, Natalia
- Elbendary, Hasnaa M.
- Rafat, Karima
- Yilmaz, Sanem
- Kanmaz, Seda
- Serin, Mine
- Krishnakumar, Deepa
- Gardham, Alice
- Maw, Anna
- Rao, Tekki Sreenivasa
- Alsubhi, Sarah
- Srour, Myriam
- Buhas, Daniela
- Jewett, Tamison
- Goldberg, Rachel E.
- Shamseldin, Hanan
- Frengen, Eirik
- Misceo, Doriana
- Strømme, Petter
- Magliocco Ceroni, José Ricardo
- Kim, Chong Ae
- Yesil, Gozde
- Sengenc, Esma
- Guler, Serhat
- Hull, Mariam
- Parnes, Mered
- Aktas, Dilek
- Anlar, Banu
- Bayram, Yavuz
- Pehlivan, Davut
- Posey, Jennifer E.
- Alavi, Shahryar
- Madani Manshadi, Seyed Ali
- Alzaidan, Hamad
- Al-Owain, Mohammad
- Alabdi, Lama
- Abdulwahab, Ferdous
- Sekiguchi, Futoshi
- Hamanaka, Kohei
- Fujita, Atsushi
- Uchiyama, Yuri
- Mizuguchi, Takeshi
- Miyatake, Satoko
- Miyake, Noriko
- Elshafie, Reem M.
- Salayev, Kamran
- Guliyeva, Ulviyya
- Alkuraya, Fowzan S.
- Gleeson, Joseph G.
- Monaghan, Kristin G.
- Langley, Katherine G.
- Yang, Hui
- Motavaf, Mahsa
- Safari, Saeid
- Alipour, Mozhgan
- Ogata, Kazuhiro
- Brown, André E.X.
- Lupski, James R.
- Houlden, Henry
- Matsumoto, Naomichi
2023
Volltextzugriff (PDF)
Brain communications, 2023, Vol.5 (5), p.fcad222-fcad222
- 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
2023
Volltextzugriff (PDF)
Biomarkers in medicine, 2023-01, Vol.17 (2), p.87-99
2023
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