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American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2037-2045
- Rosenfeld, Jill A.
- Xiao, Rui
- Bekheirnia, Mir Reza
- Kanani, Farah
- Parker, Michael J.
- Koenig, Mary K.
- Haeringen, Arie
- Ruivenkamp, Claudia
- Rosmaninho‐Salgado, Joana
- Almeida, Pedro M.
- Sá, Joaquim
- Pinto Basto, Jorge
- Palen, Emily
- Oetjens, Kathryn F.
- Burrage, Lindsay C.
- Xia, Fan
- Liu, Pengfei
- Eng, Christine M.
- Yang, Yaping
- Posey, Jennifer E.
- Lee, Brendan H.
2021
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100833, Article 100833
- Zonic, Emir
- Ferreira, Mariana
- Pardo, Luba M.
- Martini, Javier
- Rocha, Maria Eugenia
- Aanicai, Ruxandra
- Ordonez-Herrera, Natalia
- Saravanakumar, Deepa
- Almeida, Ligia S.
- Fernandes, Inês C.
- Gulati, Nishtha
- Mannepalli, Sumanth
- Hercegovac, Amela
- Al-Ali, Ruslan
- Pereira, Catarina
- Paknia, Omid
- Hladnik, Uros
- Bauer, Peter
- Pinto Basto, Jorge
- Bertoli-Avella, Aida M.
2023
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Neurological sciences, 2021-07, Vol.42 (7), p.2955-2959
2021
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Brain (London, England : 1878), 2024-04, Vol.147 (4), p.1436-1456
- Kaiyrzhanov, Rauan
- Rad, Aboulfazl
- Lin, Sheng-Jia
- Bertoli-Avella, Aida
- Kallemeijn, Wouter W
- Godwin, Annie
- Zaki, Maha S
- Huang, Kevin
- Lau, Tracy
- Petree, Cassidy
- Efthymiou, Stephanie
- Karimiani, Ehsan Ghayoor
- Hempel, Maja
- Normand, Elizabeth A
- Rudnik-Schöneborn, Sabine
- Schatz, Ulrich A
- Baggelaar, Marc P
- Ilyas, Muhammad
- Sultan, Tipu
- Alvi, Javeria Raza
- Ganieva, Manizha
- Fowler, Ben
- Aanicai, Ruxandra
- Tayfun, Gulsen Akay
- Al Saman, Abdulaziz
- Alswaid, Abdulrahman
- Amiri, Nafise
- Asilova, Nilufar
- Shotelersuk, Vorasuk
- Yeetong, Patra
- Azam, Matloob
- Babaei, Meisam
- Monajemi, Gholamreza Bahrami
- Mohammadi, Pouria
- Samie, Saeed
- Banu, Selina Husna
- Pinto Basto, Jorge
- Kortüm, Fanny
- Bauer, Mislen
- Bauer, Peter
- Beetz, Christian
- Garshasbi, Masoud
- Issa, Awatif Hameed
- Eyaid, Wafaa
- Ahmed, Hind
- Hashemi, Narges
- Hassanpour, Kazem
- Herman, Isabella
- Ibrohimov, Sherozjon
- Abdul-Majeed, Ban A
- Imdad, Maria
- Isrofilov, Maksudjon
- Kaiyal, Qassem
- Khan, Suliman
- Kirmse, Brian
- Koster, Janet
- Lourenço, Charles Marques
- Mitani, Tadahiro
- Moldovan, Oana
- Murphy, David
- Najafi, Maryam
- Pehlivan, Davut
- Rocha, Maria Eugenia
- Salpietro, Vincenzo
- Schmidts, Miriam
- Shalata, Adel
- Mahroum, Mohammad
- Talbeya, Jawabreh Kassem
- Taylor, Robert W
- Vazquez, Dayana
- Vetro, Annalisa
- Waterham, Hans R
- Zaman, Mashaya
- Schrader, Tina A
- Chung, Wendy K
- Guerrini, Renzo
- Lupski, James R
- Gleeson, Joseph
- Suri, Mohnish
- Jamshidi, Yalda
- Bhatia, Kailash P
- Vona, Barbara
- Schrader, Michael
- Severino, Mariasavina
- Guille, Matthew
- Tate, Edward W
- Varshney, Gaurav K
- Houlden, Henry
- Maroofian, Reza
2024
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European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1108-1116
- Guatibonza Moreno, Pilar
- Pardo, Luba M
- Pereira, Catarina
- Schroeder, Sabine
- Vagiri, Deepthi
- Almeida, Ligia S
- Juaristi, Carlos
- Hosny, Heba
- Loh, Clarice C Y
- Leubauer, Anika
- Torres Morales, Galina
- Oppermann, Sebastian
- Iurașcu, Marius-Ionuț
- Fischer, Steffen
- Steinicke, Tara-Marisa
- Viceconte, Nikenza
- Cozma, Claudia
- Kandaswamy, Krishna Kumar
- Pinto Basto, Jorge
- Böttcher, Tobias
- Bauer, Peter
- Bertoli-Avella, Aida
2023
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100474, Article 100474
2023
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Frontiers in genetics, 2017-10, Vol.8, p.143
2017
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Genetics in Medicine Open, 2024, Vol.2, p.101116, Article 101116
2024
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Genetics in Medicine Open, 2024, Vol.2, p.101520, Article 101520
2024
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Genetics in medicine, 2019-12, Vol.21 (12), p.2734-2743
- Peter, Virginie G.
- Quinodoz, Mathieu
- Pinto-Basto, Jorge
- Sousa, Sergio B.
- Di Gioia, Silvio Alessandro
- Soares, Gabriela
- Ferraz Leal, Gabriela
- Silva, Eduardo D.
- Pescini Gobert, Rosanna
- Miyake, Noriko
- Matsumoto, Naomichi
- Engle, Elizabeth C.
- Unger, Sheila
- Shapiro, Frederic
- Superti-Furga, Andrea
- Rivolta, Carlo
- Campos-Xavier, Belinda
2019
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Movement disorders, 2012-04, Vol.27 (4), p.583-585
2012
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100623, Article 100623
2023
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Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164
- Lopes, Fátima
- Torres, Fátima
- Soares, Gabriela
- Barbosa, Mafalda
- Silva, João
- Duque, Frederico
- Rocha, Miguel
- Sá, Joaquim
- Oliveira, Guiomar
- Sá, Maria João
- Temudo, Teresa
- Sousa, Susana
- Marques, Carla
- Lopes, Sofia
- Gomes, Catarina
- Barros, Gisela
- Jorge, Arminda
- Rocha, Felisbela
- Martins, Cecília
- Mesquita, Sandra
- Loureiro, Susana
- Cardoso, Elisa Maria
- Cálix, Maria José
- Dias, Andreia
- Martins, Cristina
- Mota, Céu R
- Antunes, Diana
- Dupont, Juliette
- Figueiredo, Sara
- Figueiroa, Sónia
- Gama-de-Sousa, Susana
- Cruz, Sara
- Sampaio, Adriana
- Eijk, Paul
- Weiss, Marjan M
- Ylstra, Bauke
- Rendeiro, Paula
- Tavares, Purificação
- Reis-Lima, Margarida
- Pinto-Basto, Jorge
- Fortuna, Ana Maria
- Maciel, Patrícia
2019
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Journal of bone and mineral research, 2010-01, Vol.25 (1), p.82-90
- Perdu, Bram
- Freitas, Fenna de
- Frints, Suzanne GM
- Schouten, Meyke
- Schrander‐Stumpel, Connie
- Barbosa, Mafalda
- Pinto‐Basto, Jorge
- Reis‐Lima, Margarida
- Vernejoul, Marie‐Christine de
- Becker, Kristin
- Freckmann, Marie‐Louise
- Keymolen, Kathlijn
- Haan, Eric
- Savarirayan, Ravi
- Koenig, Rainer
- Zabel, Bernhard
- Vanhoenacker, Filip M
- Hul, Wim Van
2010
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Movement disorders clinical practice (Hoboken, N.J.), 2016-07, Vol.3 (4), p.398-401
2016
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European journal of case reports in internal medicine, 2017-03, Vol.4 (2), p.000537
2017
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Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107025, Article 107025
2023
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Behavioral and brain functions, 2011-06, Vol.7 (1), p.19-19, Article 19
2011
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Acta myologica, 2019-09, Vol.38 (3), p.180-183
2019
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American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.260-261
2009
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Genetics in medicine, 2019-12, Vol.21 (12), p.2734-2743
- Peter, Virginie G
- Quinodoz, Mathieu
- Pinto-Basto, Jorge
- Sousa, Sergio B
- Di Gioia, Silvio Alessandro
- Soares, Gabriela
- Ferraz Leal, Gabriela
- Silva, Eduardo D
- Pescini Gobert, Rosanna
- Miyake, Noriko
- Matsumoto, Naomichi
- Engle, Elizabeth C
- Unger, Sheila
- Shapiro, Frederic
- Superti-Furga, Andrea
- Rivolta, Carlo
- Campos-Xavier, Belinda
2019
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Genetics in medicine, 2022-03, Vol.24 (3), p.S361-S361
2022
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European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1029-1035
- Almeida, Ligia S
- Pereira, Catarina
- Aanicai, Ruxandra
- Schröder, Sabine
- Bochinski, Tomasz
- Kaune, Anett
- Urzi, Alice
- Spohr, Tania C L S
- Viceconte, Nikenza
- Oppermann, Sebastian
- Alasel, Mohammed
- Ebadat, Saeedeh
- Iftikhar, Sana
- Jasinge, Eresha
- Elsayed, Solaf M
- Tomoum, Hoda
- Marzouk, Iman
- Jalan, Anil B
- Cerkauskaite, Agne
- Cerkauskiene, Rimante
- Tkemaladze, Tinatin
- Nadeem, Anjum Muhammad
- El Din Mahmoud, Iman Gamal
- Mossad, Fawzia Amer
- Kamel, Mona
- Selim, Laila Abdel
- Cheema, Huma Arshad
- Paknia, Omid
- Cozma, Claudia
- Juaristi-Manrique, Carlos
- Guatibonza-Moreno, Pilar
- Böttcher, Tobias
- Vogel, Florian
- Pinto-Basto, Jorge
- Bertoli-Avella, Aida
- Bauer, Peter
2022
Link zum Volltext
American journal of human genetics, 2022-10, Vol.109 (10), p.1909-1922
- Thomas, Quentin
- Motta, Marialetizia
- Gautier, Thierry
- Zaki, Maha S.
- Ciolfi, Andrea
- Paccaud, Julien
- Girodon, François
- Boespflug-Tanguy, Odile
- Besnard, Thomas
- Kerkhof, Jennifer
- McConkey, Haley
- Masson, Aymeric
- Denommé-Pichon, Anne-Sophie
- Cogné, Benjamin
- Trochu, Eva
- Vignard, Virginie
- El It, Fatima
- Rodan, Lance H.
- Alkhateeb, Mohammad Ayman
- Jamra, Rami Abou
- Duplomb, Laurence
- Tisserant, Emilie
- Duffourd, Yannis
- Bruel, Ange-Line
- Jackson, Adam
- Banka, Siddharth
- McEntagart, Meriel
- Saggar, Anand
- Gleeson, Joseph G.
- Sievert, David
- Bae, Hyunwoo
- Lee, Beom Hee
- Kwon, Kisang
- Seo, Go Hun
- Lee, Hane
- Saeed, Anjum
- Anjum, Nadeem
- Cheema, Huma
- Alawbathani, Salem
- Khan, Imran
- Pinto-Basto, Jorge
- Teoh, Joyce
- Wong, Jasmine
- Sahari, Umar Bin Mohamad
- Houlden, Henry
- Zhelcheska, Kristina
- Pannetier, Melanie
- Awad, Mona A.
- Lesieur-Sebellin, Marion
- Barcia, Giulia
- Amiel, Jeanne
- Delanne, Julian
- Philippe, Christophe
- Faivre, Laurence
- Odent, Sylvie
- Bertoli-Avella, Aida
- Thauvin, Christel
- Sadikovic, Bekim
- Reversade, Bruno
- Maroofian, Reza
- Govin, Jérôme
- Tartaglia, Marco
- Vitobello, Antonio
2022
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Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.278-282
2018
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