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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.229-249
- Bachmann‐Gagescu, Ruxandra
- Dempsey, Jennifer C.
- Bulgheroni, Sara
- Chen, Maida L.
- D'Arrigo, Stefano
- Glass, Ian A.
- Heller, Theo
- Héon, Elise
- Hildebrandt, Friedhelm
- Joshi, Nirmal
- Knutzen, Dana
- Kroes, Hester Y.
- Mack, Stephen H.
- Nuovo, Sara
- Parisi, Melissa A.
- Snow, Joseph
- Summers, Angela C.
- Symons, Jordan M.
- Zein, Wadih M.
- Boltshauser, Eugen
- Sayer, John A.
- Gunay‐Aygun, Meral
- Valente, Enza Maria
- Doherty, Dan
2020
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American journal of kidney diseases, 2021-03, Vol.77 (3), p.410-419
2021
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Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.56-56
2011
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Nature cell biology, 2017-10, Vol.19 (10), p.1178
2017
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Nature reviews. Genetics, 2019-05, Vol.20 (5), p.299
2019
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Human molecular genetics, 2017-12, Vol.26 (23), p.4657-4667
2017
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American journal of human genetics, 2018-02, Vol.102 (2), p.309-320
- Martinelli, Simone
- Krumbach, Oliver H.F.
- Pantaleoni, Francesca
- Coppola, Simona
- Amin, Ehsan
- Pannone, Luca
- Nouri, Kazem
- Farina, Luciapia
- Dvorsky, Radovan
- Lepri, Francesca
- Buchholzer, Marcel
- Konopatzki, Raphael
- Walsh, Laurence
- Payne, Katelyn
- Pierpont, Mary Ella
- Vergano, Samantha Schrier
- Langley, Katherine G.
- Larsen, Douglas
- Farwell, Kelly D.
- Tang, Sha
- Mroske, Cameron
- Gallotta, Ivan
- Di Schiavi, Elia
- della Monica, Matteo
- Lugli, Licia
- Rossi, Cesare
- Seri, Marco
- Cocchi, Guido
- Henderson, Lindsay
- Baskin, Berivan
- Alders, Mariëlle
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Nickerson, Deborah A.
- Chong, Jessica X.
- Meeks, Naomi
- Brown, Kathleen
- Causey, Tahnee
- Cho, Megan T.
- Demuth, Stephanie
- Digilio, Maria Cristina
- Gelb, Bruce D.
- Bamshad, Michael J.
- Zenker, Martin
- Ahmadian, Mohammad Reza
- Hennekam, Raoul C.
- Tartaglia, Marco
- Mirzaa, Ghayda M.
2018
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Journal of allergy and clinical immunology, 2010-12, Vol.126 (6), p.1099-1104.e4
2010
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Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973
2017
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Genetics in medicine, 2017-08, Vol.19 (8), p.875-882
- Vilboux, Thierry
- Doherty, Daniel A
- Glass, Ian A
- Parisi, Melissa A
- Phelps, Ian G
- Cullinane, Andrew R
- Zein, Wadih
- Brooks, Brian P
- Heller, Theo
- Soldatos, Ariane
- Oden, Neal L
- Yildirimli, Deniz
- Vemulapalli, Meghana
- Mullikin, James C
- Nisc Comparative Sequencing Program
- Malicdan, May Christine V
- Gahl, William A
- Gunay-Aygun, Meral
2017
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Clinical genetics, 2017-08, Vol.92 (2), p.166-171
2017
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Journal of medical genetics, 2019-02, Vol.56 (2), p.89
2019
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Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522
- Bachmann-Gagescu, R
- Dempsey, J C
- Phelps, I G
- O'Roak, B J
- Knutzen, D M
- Rue, T C
- Ishak, G E
- Isabella, C R
- Gorden, N
- Adkins, J
- Boyle, E A
- de Lacy, N
- O'Day, D
- Alswaid, A
- Ramadevi A, Radha
- Lingappa, L
- Lourenço, C
- Martorell, L
- Garcia-Cazorla, À
- Ozyürek, H
- Haliloğlu, G
- Tuysuz, B
- Topçu, M
- Chance, P
- Parisi, M A
- Glass, I A
- Shendure, J
- Doherty, D
2015
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American journal of human genetics, 2013-06, Vol.92 (6), p.990-995
- Unger, Sheila
- Górna, Maria W.
- Le Béchec, Antony
- Do Vale-Pereira, Sonia
- Bedeschi, Maria Francesca
- Geiberger, Stefan
- Grigelioniene, Giedre
- Horemuzova, Eva
- Lalatta, Faustina
- Lausch, Ekkehart
- Magnani, Cinzia
- Nampoothiri, Sheela
- Nishimura, Gen
- Petrella, Duccio
- Rojas-Ringeling, Francisca
- Utsunomiya, Akari
- Zabel, Bernhard
- Pradervand, Sylvain
- Harshman, Keith
- Campos-Xavier, Belinda
- Bonafé, Luisa
- Superti-Furga, Giulio
- Stevenson, Brian
- Superti-Furga, Andrea
2013
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Clinical genetics, 2016-12, Vol.90 (6), p.526-535
- Suzuki, T.
- Miyake, N.
- Tsurusaki, Y.
- Okamoto, N.
- Alkindy, A.
- Inaba, A.
- Sato, M.
- Ito, S.
- Muramatsu, K.
- Kimura, S.
- Ieda, D.
- Saitoh, S.
- Hiyane, M.
- Suzumura, H.
- Yagyu, K.
- Shiraishi, H.
- Nakajima, M.
- Fueki, N.
- Habata, Y.
- Ueda, Y.
- Komatsu, Y.
- Yan, K.
- Shimoda, K.
- Shitara, Y.
- Mizuno, S.
- Ichinomiya, K.
- Sameshima, K.
- Tsuyusaki, Y.
- Kurosawa, K.
- Sakai, Y.
- Haginoya, K.
- Kobayashi, Y.
- Yoshizawa, C.
- Hisano, M.
- Nakashima, M.
- Saitsu, H.
- Takeda, S.
- Matsumoto, N.
2016
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Matrix biology, 2018-10, Vol.71-72, p.250-261
2018
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Nature communications, 2022-02, Vol.13 (1), p.931-931, Article 931
2022
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Radiographics, 2016-03, Vol.36 (2), p.358
2016
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3584-3592
2021
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The Journal of immunology (1950), 2012-10, Vol.189 (8), p.3957-3969
2012
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Fertility and sterility, 2022-01, Vol.117 (1), p.221-223
2022
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RöFo : Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebende Verfahren, 2018-09, Vol.190 (9), p.825
2018
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Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
2009
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Neurobiology of disease, 2021-03, Vol.150, p.105236-105236, Article 105236
2021
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3606-3612
2021
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