학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Le Quesne Stabej, Polona; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vøllo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
In The American Journal of Human Genetics 2 November 2023 110(11):1919-1937
Academic Journal
Yap, Patrick; Riley, Lisa G.; Kakadia, Purvi M.; Bohlander, Stefan K.; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T.; Le Quesne Stabej, Polona
European Journal of Human Genetics. 32(1):125-129
Periodical
Yap, Patrick; Riley, Lisa G.; Kakadia, Purvi M.; Bohlander, Stefan K.; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T.; Le Quesne Stabej, Polona
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-5, 5p
Academic Journal
Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia C.; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel J.; Bitner-Glindzicz, Maria
Academic Journal
McGlacken-Byrne, Sinéad M.; Le Quesne Stabej, Polona; Del Valle, Ignacio; Ocaka, Louise; Gagunashvili, Andrey; Crespo, Berta; Moreno, Nadjeda; James, Chela; Bacchelli, Chiara; Dattani, Mehul T.; Williams, Hywel J.; Kelberman, Dan; Achermann, John C.; Conway, Gerard S.
Journal of Clinical Endocrinology & Metabolism; Jan2022, Vol. 107 Issue 1, pe254-e263, 10p
Periodical
Akin, Leyla; Rizzoti, Karine; Gregory, Louise C.; Corredor, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M.; Martos-Moreno, Gabriel Á.; Azmanov, Dimitar N.; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P.; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C.; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Pérez-Jurado, Luis A.; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul T.
Genetics in Medicine; February 2022, Vol. 24 Issue: 2 p384-397, 14p
Periodical
McGlacken-Byrne, Sinéad M; Le Quesne Stabej, Polona; Del Valle, Ignacio; Ocaka, Louise; Gagunashvili, Andrey; Crespo, Berta; Moreno, Nadjeda; James, Chela; Bacchelli, Chiara; Dattani, Mehul T; Williams, Hywel J; Kelberman, Dan; Achermann, John C; Conway, Gerard S
The Journal of Clinical Endocrinology & Metabolism; January 2022, Vol. 107 Issue: 1 pe254-e263, 10p
Periodical
Choi, Jaimin; Robb, Tamsin; Fitzgerald, Sandra; Le Quesne Stabej, Polona; Tsai, Peter; Restall, Paul; Lawrence, Ben; Print, Cristin
Pathology; February 2024, Vol. 56 Issue: 1, Number 1 Supplement 1 pS51-S51, 1p
Academic Journal
Martin, Carol-Anne; Sarlos, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmuller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A.Y.; Barraza-Garcia, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H.; Gorman, Grainne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nurnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria Jose; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gokhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E.; Hickson, Ian D.; Jackson, Andrew P.
American Journal of Human Genetics. August 2, 2018, Vol. 103 Issue 2, 221
Periodical
Gregory, Louise C; Shah, Pratik; Sanner, Juliane R F; Arancibia, Monica; Hurst, Jane; Jones, Wendy D; Spoudeas, Helen; Le Quesne Stabej, Polona; Williams, Hywel J; Ocaka, Louise A; Loureiro, Carolina; Martinez-Aguayo, Alejandro; Dattani, Mehul T
The Journal of Clinical Endocrinology & Metabolism; December 2019, Vol. 104 Issue: 12 p5737-5750, 14p
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[AR] Le Quesne Stabej, Polona
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