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Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2024-05, Vol.31 (4), p.277-278
2024
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Clinics and research in hepatology and gastroenterology, 2024-05, Vol.48 (5), p.102335-102335, Article 102335
- Abbassi, Nadia
- Bourrahouat, Aicha
- Bedoya, Eduardo Couchonnal
- Pagan, Cécile
- Qabli, Meriem El
- Maidoumi, Sana
- Belmalih, Abdelouahed
- Guillaud, Olivier
- Kissani, Najib
- Abkari, Abdelhak
- Chahid, Imane
- Rafai, Mohammed Abdoh
- Mouane, Nezha
- Kriouile, Yamna
- Aidi, Saadia
- Hida, Moustpha
- Idrissi, Mounia Lakhdar
- Belahsen, Mohammed Faouzi
- Abkari, Mohammed El
- Rkain, Maria
- Ismaili, Zahi
- Sedki, Azeddine
- Bost, Muriel
- Aboussair, Nisrine
- Lachaux, Alain
2024
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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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Human Gene, 2023-12, Vol.38, p.201230, Article 201230
2023
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Endocrine practice, 2023-12, Vol.29 (12), p.S171
2023
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BMJ case reports, 2023-11, Vol.16 (11)
2023
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Muscles, Ligaments and Tendons Journal, 2023-10, Vol.13 (4), p.653
2023
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Diagnostics (Basel), 2023-08, Vol.13 (17), p.2812
- Curado, Filipa
- Rösner, Sabine
- Zielke, Susanne
- Westphal, Gina
- Grittner, Ulrike
- Skrahina, Volha
- Alasel, Mohammed
- Malik, Ahmad Mehmood
- Beetz, Christian
- Böttcher, Tobias
- Barel, Gal
- Sah, Ashish Prasad
- Dinur, Tama
- Anjum, Nadeem
- Ichraf, Quidad
- Kriouile, Yamna
- Hadipour, Zahra
- Hadipour, Fatemeh
- Revel-Vilk, Shoshana
- Cozma, Claudia
- Hartkamp, Jörg
- Cheema, Huma
- Zimran, Ari
- Bauer, Peter
- Rolfs, Arndt
2023
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Genetics in medicine, 2022-10, Vol.24 (10), p.2194-2203
- Calì, Elisa
- Lin, Sheng-Jia
- El Chehadeh, Salima
- Chaabouni, Myriam
- Mankad, Kshitij
- Galanaki, Evangelia
- Sudhakar, Sniya
- Athanasiou-Fragkouli, Alkyoni
- Çelik, Tamer
- Narlı, Nejat
- Bianca, Sebastiano
- El Khorassani, Mohamed
- Groppa, Stanislav
- Karashova, Blagovesta Marinova
- Di Rosa, Gabriella
- Avdjieva, Daniela
- Kathom, Hadil
- Tincheva, Radka
- Veggiotti, Pierangelo
- Savasta, Salvatore
- Ruiz, Alfons Macaya
- Garavaglia, Barbara
- Borgione, Eugenia
- Papacostas, Savvas
- Compagnoni, Chiara
- Piccirilli, Alessandra
- Vikelis, Michail
- Chelban, Viorica
- Cortese, Andrea
- Sullivan, Roisin
- Papanicolaou, Eleni Zamba
- Dardiotis, Efthymios
- Ibrahim, Shahnaz
- Kirmani, Salman
- Atawneh, Osama
- Lim, Shen-Yang
- Shaikh, Farooq
- Scardamaglia, Annarita
- Mangano, Salvatore
- Scuderi, Carmela
- Morello, Giovanna
- Zollo, Massimo
- Heimer, Gali
- Alkuraya, Fowzan S.
- Guliyeva, Ulviyya
- Salayev, Kamran
- Fiorillo, Chiara
- Rissotto, Federico
- Gagliano, Antonella
- Chimenz, Roberto
- Gitto, Eloisa
- Cuppari, Caterina
- Magrinelli, Francesca
- Zagaroli, Luca
- Caloisi, Claudia
- Fabiano, Cecilia
- Bottone, Gabriella
- Di Fabio, Sandra
- Obeid, Makram
- Bakhtadze, Sophia
- Saadi, Nebal W.
- Zaki, Maha S.
- Kara, Majdi
- Specchio, Nicola
- Karimiani, Ehsan G.
- Salih, Ahmed M.
- David, Emanuele
- Curró, Riccardo
- Iezzi, Maria Laura
- Iapadre, Giulia
- Brancati, Francesco
- Di Falco, Giovanna
- Operto, Francesca F.
- Valenzise, Mariella
- Della Rocca, Ylenia
- Alesse, Edoardo
- Pironti, Erica
- Amore, Greta
- Ceravolo, Giorgia
- Zafar, Faisal
- Ullah, Ehsan
- Afzal, Erum
- Rahman, Fatima
- Parisi, Pasquale
- Genomics, Queen Square
- Andrea Accogli
- Petree, Cassidy
- Huang, Kevin
- Monastiri, Kamel
- Nardello, Rosaria
- Ognibene, Marzia
- Ruggieri, Martino
- Zara, Federico
- Abi Warde, Marie Therese
- Gerard, Benedicte
- Beetz, Christian
- Fortuna, Sara
- Soler, Miguel
- Varshney, Gaurav
- Salpietro, Vincenzo
2022
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Brain (London, England : 1878), 2022-09, Vol.145 (9), p.3022-3034
- Wong, Keit Men
- Jepsen, Wayne M
- Efthymiou, Stephanie
- Salpietro, Vincenzo
- Sanchez-Castillo, Meredith
- Yip, Janice
- Kriouile, Yamna
- Diegmann, Susann
- Dreha-Kulaczewski, Steffi
- Altmüller, Janine
- Thiele, Holger
- Nürnberg, Peter
- Toosi, Mehran Beiraghi
- Akhondian, Javad
- Ghayoor Karimiani, Ehsan
- Hummel-Abmeier, Hannah
- Huppke, Brenda
- Houlden, Henry
- Gärtner, Jutta
- Maroofian, Reza
- Huppke, Peter
2022
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Clinica chimica acta, 2022-01, Vol.524, p.51-58
2022
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Molecular biology reports, 2021-10, Vol.48 (10), p.6999-7006
2021
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Klinische Padiatrie, 2021-09, Vol.233 (5), p.226
2021
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BMC medical genomics, 2021-04, Vol.14 (1), p.113-113, Article 113
2021
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BMC medical genomics, 2021-04, Vol.14 (1)
2021
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American journa of biomedical and life sciences (Online), 2021, Vol.9 (5), p.254
2021
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Pharmaceutics, 2020-08, Vol.12 (8), p.766
2020
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Pediatric neurology, 2020-07, Vol.108, p.128-128
2020
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Journal of the neurological sciences, 2020-03, Vol.410, p.116639, Article 116639
2020
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Journal of the neurological sciences, 2020, Vol.410, p.116639-116639
2020
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Brain (London, England : 1878), 2019-10, Vol.142 (10), p.2948-2964
- Efthymiou, Stephanie
- Salpietro, Vincenzo
- Malintan, Nancy
- Poncelet, Mallory
- Kriouile, Yamna
- Fortuna, Sara
- De Zorzi, Rita
- Payne, Katelyn
- Henderson, Lindsay B
- Cortese, Andrea
- Maddirevula, Sateesh
- Alhashmi, Nadia
- Wiethoff, Sarah
- Ryten, Mina
- Botia, Juan A
- Provitera, Vincenzo
- Schuelke, Markus
- Vandrovcova, Jana
- Walsh, Laurence
- Torti, Erin
- Iodice, Valeria
- Najafi, Maryam
- Karimiani, Ehsan Ghayoor
- Maroofian, Reza
- Siquier-Pernet, Karine
- Boddaert, Nathalie
- De Lonlay, Pascale
- Cantagrel, Vincent
- Aguennouz, Mhammed
- El Khorassani, Mohamed
- Schmidts, Miriam
- Alkuraya, Fowzan S
- Edvardson, Simon
- Nolano, Maria
- Devaux, Jérôme
- Houlden, Henry
2019
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Annals of neurology, 2019-08, Vol.86 (2), p.225-240
- Chelban, Viorica
- Wilson, Matthew P.
- Warman Chardon, Jodi
- Vandrovcova, Jana
- Zamba‐Papanicolaou, Eleni
- Pope, Simon
- Conte, Maria R.
- Abis, Giancarlo
- Liu, Yo‐Tsen
- Tribollet, Eloise
- Haridy, Nourelhoda A.
- Botía, Juan A.
- Ryten, Mina
- Nicolaou, Paschalis
- Minaidou, Anna
- Kernohan, Kristin D.
- Eaton, Alison
- Bello, Oscar
- Bremner, Fion
- Cordivari, Carla
- Reilly, Mary M.
- Foiani, Martha
- Zetterberg, Henrik
- Heales, Simon J. R.
- Rothman, James E.
- Clayton, Peter T.
- Houlden, Henry
- Kriouile, Yamna
- Aguennouz, Mhammed
- Groppa, Stanislav
- Marinova Karashova, Blagovesta
- Van Maldergem, Lionel
- Nachbauer, Wolfgang
- Boesch, Sylvia
- Arning, Larissa
- Timmann, Dagmar
- Cormand, Bru
- Pérez‐Dueñas, Belen
- Di Rosa, Gabriella
- Goraya, Jatinder S.
- Sultan, Tipu
- Mine, Jun
- Avdjieva, Daniela
- Kathom, Hadil
- Tincheva, Radka
- Pineda‐Marfa, Mercedes
- Ferrari, Michel D.
- van den Maagdenberg, Arn M J M
- Verrotti, Alberto
- Marseglia, Giangluigi
- García‐Silva, Mayte
- Ruiz, Alfons Macaya
- Garavaglia, Barbara
- Borgione, Eugenia
- Portaro, Simona
- Boles, Richard
- Giunti, Paola
- Salpietro, Vincenzo
- Efthymiou, Stephanie
- Kullmann, Dimitri
- Kaiyrzhanov, Rauan
- Sullivan, Roisin
- Khan, Alaa Matooq
- Yau, Wai Yan
- Papanicolaou, Eleni Zamba
- Maqbool, Shazia
- Rana, Nuzhat Noureen
- Atawneh, Osama
- Shaikh, Farooq
- Koutsis, George
- Breza, Marianthi
- Mangano, Salvatore
- Scuderi, Carmela
- Stojkovic, Tanya
- Torti, Erin
- Zollo, Massimi
- Dauvilliers, Yves A.
- Rizig, Mie
- Okubadejo, Njideka U.
- Ojo, Oluwadamilola O.
- Wahab, Kolawole
- Bello, Abiodun H.
- Obiabo, Yahaya
- Nwazor, Ernest
- Iyagba, Alagoma
- Taiwo, Lolade
- Komolafe, Morenikeji
- Oguntunde, Olapeju
- Senkevich, Konstantin
- Haridy, Nourelhoda
- Shashkin, Chingiz
- Zharkynbekova, Nazira
- Koneyev, Kairgali
- Isrofilov, Maksud
- Khachatryan, Samson
- Silvestri, Gabriella
- Bourinaris, Thomas
- Fidani, Liana
2019
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Nature communications, 2019-07, Vol.10 (1), p.3094-16, Article 3094
- Salpietro, Vincenzo
- Dixon, Christine L
- Guo, Hui
- Bello, Oscar D
- Vandrovcova, Jana
- Efthymiou, Stephanie
- Maroofian, Reza
- Heimer, Gali
- Burglen, Lydie
- Valence, Stephanie
- Torti, Erin
- Hacke, Moritz
- Rankin, Julia
- Tariq, Huma
- Colin, Estelle
- Procaccio, Vincent
- Striano, Pasquale
- Mankad, Kshitij
- Lieb, Andreas
- Chen, Sharon
- Pisani, Laura
- Bettencourt, Conceicao
- Männikkö, Roope
- Manole, Andreea
- Brusco, Alfredo
- Grosso, Enrico
- Ferrero, Giovanni Battista
- Armstrong-Moron, Judith
- Gueden, Sophie
- Bar-Yosef, Omer
- Tzadok, Michal
- Monaghan, Kristin G
- Santiago-Sim, Teresa
- Person, Richard E
- Cho, Megan T
- Willaert, Rebecca
- Yoo, Yongjin
- Chae, Jong-Hee
- Quan, Yingting
- Wu, Huidan
- Wang, Tianyun
- Bernier, Raphael A
- Xia, Kun
- Blesson, Alyssa
- Jain, Mahim
- Motazacker, Mohammad M
- Jaeger, Bregje
- Schneider, Amy L
- Boysen, Katja
- Muir, Alison M
- Myers, Candace T
- Gavrilova, Ralitza H
- Gunderson, Lauren
- Schultz-Rogers, Laura
- Klee, Eric W
- Dyment, David
- Osmond, Matthew
- Parellada, Mara
- Llorente, Cloe
- Gonzalez-Peñas, Javier
- Carracedo, Angel
- Van Haeringen, Arie
- Ruivenkamp, Claudia
- Nava, Caroline
- Heron, Delphine
- Nardello, Rosaria
- Iacomino, Michele
- Minetti, Carlo
- Skabar, Aldo
- Fabretto, Antonella
- Raspall-Chaure, Miquel
- Chez, Michael
- Tsai, Anne
- Fassi, Emily
- Shinawi, Marwan
- Constantino, John N
- De Zorzi, Rita
- Fortuna, Sara
- Kok, Fernando
- Keren, Boris
- Bonneau, Dominique
- Choi, Murim
- Benzeev, Bruria
- Zara, Federico
- Mefford, Heather C
- Scheffer, Ingrid E
- Clayton-Smith, Jill
- Macaya, Alfons
- Rothman, James E
- Eichler, Evan E
- Kullmann, Dimitri M
- Houlden, Henry
2019
Link zum Volltext
Neurology, 2019-05, Vol.92 (20), p.e2397
2019
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American journal of human genetics, 2019-04, Vol.104 (4), p.721-730
- Salpietro, Vincenzo
- Malintan, Nancy T.
- Llano-Rivas, Isabel
- Spaeth, Christine G.
- Efthymiou, Stephanie
- Striano, Pasquale
- Vandrovcova, Jana
- Cutrupi, Maria C.
- Chimenz, Roberto
- David, Emanuele
- Di Rosa, Gabriella
- Marce-Grau, Anna
- Raspall-Chaure, Miquel
- Martin-Hernandez, Elena
- Zara, Federico
- Minetti, Carlo
- Kriouile, Yamna
- El Khorassani, Mohamed
- Aguennouz, Mhammed
- Karashova, Blagovesta
- Avdjieva, Daniela
- Kathom, Hadil
- Tincheva, Radka
- Van Maldergem, Lionel
- Nachbauer, Wolfgang
- Boesch, Sylvia
- Arning, Larissa
- Timmann, Dagmar
- Cormand, Bru
- Pérez-Dueñas, Belen
- Pironti, Erica
- Goraya, Jatinder S.
- Sultan, Tipu
- Kirmani, Salman
- Ibrahim, Shahnaz
- Jan, Farida
- Mine, Jun
- Banu, Selina
- Veggiotti, Pierangelo
- Ferrari, Michel D.
- Verrotti, Alberto
- Marseglia, Gian Luigi
- Savasta, Salvatore
- Garavaglia, Barbara
- Scuderi, Carmela
- Borgione, Eugenia
- Dipasquale, Valeria
- Cutrupi, Maria Concetta
- Portaro, Simona
- Sanchez, Benigno Monteagudo
- Pineda-Marfa’, Mercedes
- Munell, Francina
- Macaya, Alfons
- Boles, Richard
- Heimer, Gali
- Papacostas, Savvas
- Manole, Andreea
- Malintan, Nancy
- Zanetti, Maria Natalia
- Hanna, Michael G.
- Rothman, James E.
- Kullmann, Dimitri M.
- Houlden, Henry
- Bello, Oscar D.
- De Zorzi, Rita
- Fortuna, Sara
- Dauber, Andrew
- Alkhawaja, Mariam
- Mankad, Kshitij
- Vitobello, Antonio
- Thomas, Quentin
- Mau-Them, Frederic Tran
- Faivre, Laurence
- Martinez-Azorin, Francisco
- Prada, Carlos E.
- Krishnakumar, Shyam S.
2019
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