학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
Academic Journal
Yap, P.; Kakadia, P.M.; Bohlander, S.K.; Curran, B.; Print, C.; Le Quesne Stabej, P.; Alburaiky, S.; Hayes, I.; Riley, L.G.; Cooper, S.T.; Rahimi, M.J.; Oppermann, H.
In: European Journal of Human Genetics . (European Journal of Human Genetics, January 2024, 32(1):125-129)
Academic Journal
Nil, Z.; Huang, Y.; Barish, S.; Kanca, O.; Wangler, M.F.; Yamamoto, S.; Bellen, H.J.; Deshwar, A.R.; Zon, J.; Cytrynbaum, C.; Jobling, R.; Weksberg, R.; Costain, G.; Choufani, S.; Zhang, X.; Mao, X.; Le Quesne Stabej, P.; Hayes, I.; Yap, P.; Haldeman-Englert, C.; Wilson, C.; Prescott, T.; Tveten, K.; Vøllo, A.; Haynes, D.; Wheeler, P.G.; Blyth, M.; Banka, S.; Afenjar, A.; Mignot, C.; Robin-Renaldo, F.; Keren, B.; Wegner, D.J.; Sisco, K.; Shinawi, M.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 November 2023, 110(11):1919-1937)
Academic Journal
Robb, T.J.; Tsai, P.; Fitzgerald, S.; Shields, P.; Houseman, P.S.; Patel, R.; Fan, V.; Curran, B.; Tse, R.; Le Quesne Stabej, P.; Blenkiron, C.; Print, C.G.; Lawrence, B.; Ting, J.; Kramer, N.; Woodhouse, B.J.; Coats, E.; Parker, K.; Reeve, J.
In: Cancer Research Communications . (Cancer Research Communications, January 2023, 3(1):31-42)
Academic Journal
Martin, C.-A.; Sarlós, K.; Logan, C.V.; Thakur, R.S.; Parry, D.A.; Bizard, A.H.; Leitch, A.; Cleal, L.; Ali, N.S.; Al-Owain, M.A.; Allen, W.; Altmüller, J.; Aza-Carmona, M.; Barakat, B.A.Y.; Barraza-García, J.; Begtrup, A.; Bogliolo, M.; Cho, M.T.; Cruz-Rojo, J.; Mundi Dhahrabi, H.A.; Elcioglu, N.H.; GOSgene; Gorman, G.S.; Jobling, R.; Kesterton, I.; Kishita, Y.; Kohda, M.; Le Quesne Stabej, P.; Malallah, A.J.; Nürnberg, P.; Ohtake, A.; Okazaki, Y.; Pujol, R.; Ramirez, M.J.; Revah-Politi, A.; Shimura, M.; Stevens, P.; Taylor, R.W.; Turner, L.; Williams, H.; Wilson, C.; Yigit, G.; Zahavich, L.; Alkuraya, F.S.; Surralles, J.; Iglesias, A.; Murayama, K.; Wollnik, B.; Dattani, M.; Heath, K.E.; Hickson, I.D.; Jackson, A.P.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 May 2024, 111(5):996)
Academic Journal
Akin, L.; Kendirci, M.; Kurtoglu, S.; Rizzoti, K.; Galichet, C.; Robinson, I.; Lovell-Badge, R.; Gregory, L.C.; Buonocore, F.; McGlacken-Byrne, S.M.; Suntharalingham, J.P.; Achermann, J.C.; Dattani, M.T.; Corredor, B.; Martos-Moreno, G.Á.; Argente, J.; Le Quesne Stabej, P.; Williams, H.; Mouilleron, S.; Capra, V.; Azmanov, D.N.; Filipovska, A.; Gustincich, S.; Tasic, V.; Gucev, Z.; Accogli, A.; Tuilpakov, A.; Maghnie, M.; Gonen, Z.B.; Pérez-Jurado, L.A.
In: Genetics in Medicine . (Genetics in Medicine, February 2022, 24(2):384-397)
Academic Journal
McGlacken-Byrne, S.M.; Del Valle, I.; Dattani, M.T.; Achermann, J.C.; Conway, G.S.; Le Quesne Stabej, P.; Ocaka, L.; Gagunashvili, A.; James, C.; Bacchelli, C.; Kelberman, D.; Crespo, B.; Moreno, N.; Williams, H.J.
In: Journal of Clinical Endocrinology and Metabolism . (Journal of Clinical Endocrinology and Metabolism, 1 January 2022, 107(1):E254-E263)
Academic Journal
Gregory, L.C.; Le Quesne Stabej, P.; Williams, H.J.; Ocaka, L.A.; Dattani, M.T.; Shah, P.; Sanner, J.R.F.; Spoudeas, H.; Arancibia, M.; Loureiro, C.; Martinez-Aguayo, A.; Hurst, J.; Jones, W.D.
In: Journal of Clinical Endocrinology and Metabolism . (Journal of Clinical Endocrinology and Metabolism, 13 August 2019, 104(12):5737-5750)
Academic Journal
Mestek-Boukhibar, L.; Ocaka, L.; Gagunashvili, A.; Le Quesne Stabej, P.; Bacchelli, C.; Jani, N.; Beales, P.L.; Williams, H.J.; Clement, E.; Jones, W.D.; Hurst, J.A.; Drury, S.; Rahman, S.; Bitner-Glindzicz, M.; Jenkins, L.; Peters, M.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 November 2018, 55(11):721-728)
Academic Journal
Martin, C.-A.; Logan, C.V.; Parry, D.A.; Leitch, A.; Cleal, L.; Jackson, A.P.; Sarlós, K.; Thakur, R.S.; Bizard, A.H.; Hickson, I.D.; Ali, N.S.; Barakat, B.A.Y.; Dhahrabi, H.A.M.; Malallah, A.J.; Al-Owain, M.A.; Allen, W.; Wilson, C.; Altmüller, J.; Nürnberg, P.; Aza-Carmona, M.; Barraza-García, J.; Heath, K.E.; Bogliolo, M.; Pujol, R.; Ramirez, M.J.; Surralles, J.; Begtrup, A.; Cho, M.T.; Cruz-Rojo, J.; Elcioglu, N.H.; Le Quesne Stabej, P.; Williams, H.; Dattani, M.; Gorman, G.S.; Taylor, R.W.; Jobling, R.; Zahavich, L.; Kesterton, I.; Stevens, P.; Kishita, Y.; Kohda, M.; Okazaki, Y.; Ohtake, A.; Revah-Politi, A.; Shimura, M.; Murayama, K.; Turner, L.; Yigit, G.; Wollnik, B.; Alkuraya, F.S.; Iglesias, A.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 August 2018, 103(2):221-231)
Academic Journal
Le Quesne Stabej, P.; James, C.; Ocaka, L.; Williams, H.J.; Bitner-Glindzicz, M.; Tekman, M.; Stanescu, H.C.; Kleta, R.; Grunewald, S.; Clement, E.; Morrogh, D.; Calder, A.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, 7 February 2017, 12(1):1-8)
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[AR] Le Quesne Stabej, P.
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