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M

Magdalena Avbelj Stefanija

Tel Aviv University
H指数:19
被引数:2,098

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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

遗传和临床特征，包括21-羟化酶缺乏症引起的先天性肾上腺增生的斯洛伐克和斯洛文尼亚患者的睾丸肾上腺肿瘤的发生

FRONTIERS IN ENDOCRINOLOGY
IF4.6
2023-03-175
OAAI
Saho, Robert; Dolzan, Vita; Tansek, Mojca Zerjav; Pastorakova, Andrea; Petrovic, Robert; Knapkova, Maria; Podkrajsek, Katarina Trebusak; Omladic, Jasna Suput; Bertok, Sara; Stefanija, Magdalena Avbelj; Kotnik, Primoz; Battelino, Tadej; Pribilincova, Zuzana; Groselj, Urh
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2020-05-01105
OAAI
Tesch, Victoria Katharina; Abolhassani, Hassan; Shadur, Bella; Zobel, Joachim; Mareika, Yuliya; Sharapova, Svetlana; Karakoc-Aydiner, Elif; Riviere, Jacques G.; Garcia-Prat, Marina; Moes, Nicolette; Haerynck, Filomeen; Gonzales-Granado, Luis I.; Santos Perez, Juan Luis; Mukhina, Anna; Shcherbina, Anna; Aghamohammadi, Asghar; Hammarstrom, Lennart; Dogu, Figen; Haskologlu, Sule; Ikinciogullari, Aydan I.; Bal, Sevgi Kostel; Baris, Safa; Kilic, Sara Sebnem; Karaca, Neslihan Edeer; Kutukculer, Necil; Girschick, Hermann; Kolios, Antonios; Keles, Sevgi; Uygun, Vedat; Stepensky, Polina; Worth, Austen; van Montfrans, Joris M.; Peters, Anke M. J.; Meyts, Isabelle; Adeli, Mehdi; Marzollo, Antonio; Padem, Nurcicek; Khojah, Amer M.; Chavoshzadeh, Zahra; Stefanija, Magdalena Avbelj; Bakhtiar, Shahrzad; Florkin, Benoit; Meeths, Marie; Gamez, Laura; Grimbacher, Bodo; Seppanen, Mikko R. J.; Lankester, Arjan; Gennery, Andrew R.; Seidel, Markus G.
An ancient founder mutation in PROKR2 impairs human reproduction
HUMAN MOLECULAR GENETICS
IF3.2
2012-07-0528
OAAI
Stefanija, Magdalena Avbelj; Jeanpierre, Marc; Sykiotis, Gerasimos P.; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G.; Balasubramanian, Ravikumar; Dwyer, Andrew A.; Florez, Jose C.; Cheetham, Timothy; Pearce, Simon H.; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E.; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F.; Dode, Catherine; Crowley, William F., Jr.; Pitteloud, Nelly
Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
2012-04-01108
OAAI
Raivio, Taneli; Avbelj, Magdalena; McCabe, Mark J.; Romero, Christopher J.; Dwyer, Andrew A.; Tommiska, Johanna; Sykiotis, Gerasimos P.; Gregory, Louise C.; Diaczok, Daniel; Tziaferi, Vaitsa; Elting, Mariet W.; Padidela, Raja; Plummer, Lacey; Martin, Cecilia; Feng, Bihua; Zhang, Chengkang; Zhou, Qun-Yong; Chen, Huaibin; Mohammadi, Moosa; Quinton, Richard; Sidis, Yisrael; Radovick, Sally; Dattani, Mehul T.; Pitteloud, Nelly

研究方向

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T
Tadej Battelino
H 指数:69论文数:630被引数:2.4万
N
Nataša Bratina
H 指数:36论文数:127被引数:5,235
P
Primož Kotnik
H 指数:18论文数:118被引数:1,534
K
Katarina Trebušak Podkrajšek
H 指数:28论文数:126被引数:3,526
N
Nelly Pitteloud
H 指数:61论文数:279被引数:1.3万
G
Gerasimos P. Sykiotis
H 指数:42论文数:198被引数:9,099
M
Maruša Debeljak
H 指数:22论文数:137被引数:1,665
L
Lacey Plummer
H 指数:33论文数:178被引数:5,421
R
Richard Quinton
H 指数:54论文数:379被引数:1.2万
O
Olga Kordonouri
H 指数:58论文数:495被引数:1.6万