학술논문
'학술논문'
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1~10
Academic Journal
Meester, J.A.N.; Hebert, A.; Bastiaansen, M.; Rabaut, L.; Bastianen, J.; Boeckx, N.; Van Laer, L.; Verstraeten, A.; Loeys, B.L.; Ashcroft, K.; Hartill, V.; Atwal, P.S.; Benichou, A.; Billon, C.; Blankensteijn, J.D.; Brennan, P.; Bucks, S.A.; Campbell, I.M.; Lu, A.C.; McManus, M.L.; Conrad, S.; Isidor, B.; Curtis, S.L.; Dasouki, M.; Lee, K.; Trivedi, B.; Dent, C.L.; Whittington, R.; Eden, J.; Goel, H.; Houweling, A.C.; Overwater, E.; Jackson, N.; Koopman, P.; Korpioja, A.; Kraatari-Tiri, M.; Kuulavainen, L.; Low, K.J.; Oakley, S.P.; Organ, N.M.; Oliver, J.; Revencu, N.; Trainer, A.H.; Zentner, D.; Turner, C.L.S.; Zankl, A.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2024, 9(1))
Academic Journal
Miller, K.A.; Tooze, R.S.; McGowan, S.J.; Twigg, S.R.F.; Wilkie, A.O.M.; Cruz Walma, D.A.; Pinkas, D.M.; Bufton, J.C.; Richardson, W.; Manning, C.E.; Hunt, A.E.; Cros, J.; Chalk, R.; Bullock, A.N.; Hartill, V.; Parker, M.J.; Staunton, D.; Johnson, D.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 May 2024, 61(5):490-501)
Academic Journal
Larsen, I.S.B.; Povolo, L.; Tian, W.; Mygind, K.J.; Hintze, J.; Hansen, L.; Vakhrushev, S.Y.; Schjoldager, K.T.; Clausen, H.; Joshi, H.J.; Halim, A.; Zhou, L.; Jiang, C.; Worzfeld, T.; Hartill, V.; Johnson, C.A.; Prescott, K.; Mullegama, S.V.; McConkie-Rosell, A.; McDonald, M.
In: Proceedings of the National Academy of Sciences of the United States of America . (Proceedings of the National Academy of Sciences of the United States of America, 23 May 2023, 120(21))
Academic Journal
Greene, D.; Gelb, B.D.; Turro, E.; Pirri, D.; Frudd, K.; Birdsey, G.M.; Sackey, E.; Mansour, S.; Ostergaard, P.; Al-Owain, M.; Giese, A.P.J.; Riaz, S.; Riazuddin, S.; Ahmed, Z.M.; Ramzan, K.; Imtiaz, F.; Yamanaka, I.; Morisaki, T.; Morisaki, H.; Boeckx, N.; Loeys, B.L.; Thys, C.; Freson, K.; Brennan, P.; Hartill, V.; Harvengt, J.; Kosho, T.; Masuno, M.; Ohata, T.; Stewart, H.; Taibah, K.; Turner, C.L.S.; Mumford, A.
In: Nature Medicine . (Nature Medicine, March 2023, 29(3):679-688)
Academic Journal
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 May 2021, 58(5):334-341)
Academic Journal
Cuvertino, S.; Faundes, V.; Banka, S.; Kimber, S.J.; Hartill, V.; Sheridan, E.; Johnson, C.A.; Colyer, A.; Jackson, B.; Nadat, F.; Peckham, M.; Garner, T.; Sellers, R.; Stevens, A.; Nair, N.; Barton, A.; Al-Gazali, L.; Canham, N.; Flinter, F.; Holder-Espinasse, M.; Hertecant, J.; Lynch, S.A.; Narasimhan, V.M.; Seri, M.; Montanari, F.; Southgate, L.; Trembath, R.; Squeo, G.M.; Venuto, S.; Merla, G.; van Heel, D.; Weisberg, D.; Stals, K.; Ellard, S.
In: Genetics in Medicine . (Genetics in Medicine, 1 May 2020, 22(5):867-877)
Academic Journal
Kennedy, H.; Potter, H.; Mackay, R.; King, R.; Mead, S.; Florkowski, C.M.; George, P.M.; Doudney, K.; Haack, T.B.; Alhaddad, B.; Kremer, L.S.; Kopajtich, R.; Strom, T.M.; Meitinger, T.; Prokisch, H.; Hartill, V.; Johnson, C.A.; Mataković, L.; Feichtinger, R.G.; Sperl, W.; Mayr, J.A.; Baumgartner, E.R.; Alston, C.L.; McFarland, R.; Taylor, R.W.; O'Sullivan, S.; Connolly, G.; Gannon, C.; Crozier, I.; Chan, W.; Sage, M.; Höfken, T.; Rodenburg, R.J.; Minet, J.C.; Dobbie, A.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 September 2016, 99(3):674-682)
Academic Journal
Hartill, V.; Logan, C.; Parry, D.A.; Szymanska, K.; Sheridan, E.; Johnson, C.; Ashcroft, K.; Prescott, K.; Dobbie, A.; Bennett, C.; English, K.; Barwick, S.; Goodship, J.
In: Cilia . (Cilia, July 13, 2015, SUPPLEMENT 1)
Academic Journal
Cuvertino, S.; Faundes, V.; Banka, S.; Kimber, S.J.; Hartill, V.; Sheridan, E.; Johnson, C.A.; Colyer, A.; Jackson, B.; Nadat, F.; Peckham, M.; Garner, T.; Sellers, R.; Stevens, A.; Nair, N.; Barton, A.; Al-Gazali, L.; Canham, N.; Flinter, F.; Holder-Espinasse, M.; Hertecant, J.; Lynch, S.A.; Narasimhan, V.M.; Seri, M.; Montanari, F.; Southgate, L.; Trembath, R.; Squeo, G.M.; Venuto, S.; Merla, G.; van Heel, D.; Weisberg, D.; Stals, K.; Ellard, S.
In: Genetics in Medicine . (Genetics in Medicine, 1 May 2020, 22(5):980)
Academic Journal
In: Frontiers in Pediatrics . (Frontiers in Pediatrics, 20 November 2017, 5)
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[AR] Hartill, V.
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