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M

Maria A. Caligo

University Hospital of Pisa
H指数:51
被引数:1.1万

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Case report: A Newly Identified G-protein Subunit α-11 Loss-of-Function Variant Causing Familial Hypocalciuric Hypercalcemia Type 2 in an Italian Kindred

病例报告：在一个意大利家系中发现一种新型G蛋白亚基α-11失活功能变异导致2型家族性低钙尿性高钙血症

Frontiers in Endocrinology
IF4.6
2026-09-100
OA
FC Filomena Cetani; FC Fabrizia Citro; SB Simona Borsari; LP Laura Pierotti; SD Simone Della Valentina; CS Chiara Sardella; AD Anna Dal Lago; AM Angela Michelucci; MA Maria Adelaide Caligo; EP Elena Pardi
EP226 - ECE_1550 - Integrated clinical, genetic and histopathological analysis with long-term follow-up of nine Italian families harboring germline variants in the CDC73 gene

EP226 - ECE_1550 - 对携带CDC73基因胚系变异的九个意大利家庭进行整合临床、遗传和病理组织学分析及长期随访研究

European Journal of Endocrinology
IF5.2
2026-08-100
OAAI
Anna Dal Lago; Laura Pierotti; Simone Della Valentina; Chiara Sardella; Giacomo De Leo; Elena Pardi; Angela Michelucci; Maria Adelaide Caligo; Gianluca Frustaci; Luigi De Napoli; Gabriele Materazzi; Liborio Torregrossa; Filomena Cetani
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

398,238名女性的全基因组关联研究揭示了七个与高级别浆液性卵巢癌相关的位点

npj Genomic Medicine
IF4.8
2025-11-200
OAAI
Daniel R. Barnes; Jonathan P. Tyrer; Joe Dennis; Goska Leslie; Manjeet K. Bolla; Michael Lush; Amber M. Aeilts; Kristiina Aittomäki; Nadine Andrieu; Irene L. Andrulis; Hoda Anton-Culver; Adalgeir Arason; Banu K. Arun; Judith Balmaña; Elisa V. Bandera; Rosa B. Barkardottir; Lieke P. V. Berger; Amy Berrington de Gonzalez; Pascaline Berthet; Katarzyna Białkowska; Line Bjørge; Amie M. Blanco; Marinus J. Blok; Kristie A. Bobolis; Natalia V. Bogdanova; James D. Brenton; Henriett Butz; Saundra S. Buys; Maria A. Caligo; Ian Campbell; Carmen Castillo; Kathleen B. M. Claes; Sarah V. Colonna; Linda S. Cook; Mary B. Daly; Agnieszka Dansonka-Mieszkowska; Miguel de la Hoya; Anna deFazio; Allison DePersia; Yuan Chun Ding; Jennifer A. Doherty; Susan M. Domchek; Thilo Dörk; Zakaria Einbeigi; Christoph Engel; D. Gareth Evans; Lenka Foretova; Renée T. Fortner; Florentia Fostira; Maria Cristina Foti; Eitan Friedman; Megan N. Frone; Patricia A. Ganz; Aleksandra Gentry-Maharaj; Gord Glendon; Andrew K. Godwin; Anna González-Neira; Mark H. Greene; Jacek Gronwald; Aliana Guerrieri-Gonzaga; Ute Hamann; Thomas V. O. Hansen; Holly R. Harris; Jan Hauke; Florian Heitz; Frans B. L. Hogervorst; Maartje J. Hooning; John L. Hopper; Chad D. Huff; David G. Huntsman; Evgeny N. Imyanitov; Louise Izatt; Anna Jakubowska; Paul A. James; Ramunas Janavicius; Esther M. John; Siddhartha Kar; Beth Y. Karlan; Catherine J. Kennedy; Lambertus A.L.M. Kiemeney; Irene Konstantopoulou; Jolanta Kupryjanczyk; Yael Laitman; Ofer Lavie; Kate Lawrenson; Jenny Lester; Fabienne Lesueur; Carlos Lopez-Pleguezuelos; Phuong L. Mai; Siranoush Manoukian; Taymaa May; Iain A. McNeish; Usha Menon; Roger L. Milne; Francesmary Modugno; Jennifer M. Mongiovi; Marco Montagna; Kirsten B. Moysich; Susan L. Neuhausen; Finn C. Nielsen; Catherine Noguès; Edit Oláh; Olufunmilayo I. Olopade; Ana Osorio; Laura Papi; Harsh Pathak; Celeste L. Pearce; Inge S. Pedersen; Ana Peixoto; Tanja Pejovic; Pei-Chen Peng; Beth N. Peshkin; Paolo Peterlongo; C. Bethan Powell; Darya Prokofyeva; Miquel Angel Pujana; Paolo Radice; Muhammad U. Rashid; Gad Rennert; George Richenberg; Dale P. Sandler; Naoko Sasamoto; Veronica W. Setiawan; Priyanka Sharma; Weiva Sieh; Christian F. Singer; Katie Snape; Anna P. Sokolenko; Penny Soucy; Melissa C. Southey; Dominique Stoppa-Lyonnet; Rebecca Sutphen; Christian Sutter; Yen Y. Tan; Manuel R. Teixeira; Kathryn L. Terry; Liv Cecilie V. Thomsen; Marc Tischkowitz; Amanda E. Toland; Toon Van Gorp; Ana Vega; Digna R. Velez Edwards; Penelope M. Webb; Jeffrey N. Weitzel; Nicolas Wentzensen; Alice S. Whittemore; Stacey J. Winham; Anna H. Wu; Siddhartha Yadav; Yao Yu; Argyrios Ziogas; Andrew Berchuck; Fergus J. Couch; Ellen L. Goode; Marc T. Goodman; Alvaro N. Monteiro; Kenneth Offit; Susan J. Ramus; Harvey A. Risch; Joellen M. Schildkraut; Mads Thomassen; Jacques Simard; Douglas F. Easton; Michelle R. Jones; Georgia Chenevix-Trench; Simon A. Gayther; Antonis C. Antoniou; Paul D. P. Pharoah
Role of MEN1 mutations on postoperative outcomes of patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: a single center experience

MEN1基因突变对多发性内分泌腺瘤病1型相关原发性甲状旁腺功能亢进患者术后预后的影响：一项单中心经验

Journal of Endocrinological Investigation
IF3.5
2025-11-120
PRE
Laura Pierotti; Elena Pardi; Chiara Sardella; Simone Della Valentina; Anna Dal Lago; Paolo Piaggi; Gabriele Materazzi; Gianluca Frustaci; Leonardo Rossi; Fausto Bogazzi; Liborio Torregrossa; Angela Michelucci; Maria Adelaide Caligo; Claudio Marcocci; Filomena Cetani
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

卵巢癌病理特征是BRCA1和BRCA2变异致病性的预测因子

BRITISH JOURNAL OF CANCER
IF6.8
2023-04-198
OA
O'Mahony, Denise G.; Ramus, Susan J.; Southey, Melissa C.; Meagher, Nicola S.; Hadjisavvas, Andreas; John, Esther M.; Hamann, Ute; Imyanitov, Evgeny N.; Andrulis, Irene L.; Sharma, Priyanka; Daly, Mary B.; Hake, Christopher R.; Weitzel, Jeffrey N.; Jakubowska, Anna; Godwin, Andrew K.; Arason, Adalgeir; Bane, Anita; Simard, Jacques; Soucy, Penny; Caligo, Maria A.; Mai, Phuong L.; Claes, Kathleen B. M.; Teixeira, Manuel R.; Chung, Wendy K.; Lazaro, Conxi; Hulick, Peter J.; Toland, Amanda E.; Pedersen, Inge Sokilde; Neuhausen, Susan L.; Vega, Ana; de la Hoya, Miguel; Nevanlinna, Heli; Dhawan, Mallika; Zampiga, Valentina; Danesi, Rita; Varesco, Liliana; Gismondi, Viviana; Vellone, Valerio Gaetano; James, Paul A.; Janavicius, Ramunas; Nikitina-Zake, Liene; Nielsen, Finn Cilius; van Overeem Hansen, Thomas; Pejovic, Tanja; Borg, Ake; Rantala, Johanna; Offit, Kenneth; Montagna, Marco; Nathanson, Katherine L.; Domchek, Susan M.; Osorio, Ana; Garcia, Maria J.; Karlan, Beth Y.; De Fazio, Anna; Bowtell, David; McGuffog, Lesley; Leslie, Goska; Parsons, Michael T.; Doerk, Thilo; Speith, Lisa-Marie; dos Santos, Elizabeth Santana; da Costa, Alexandre Andre B. A.; Radice, Paolo; Peterlongo, Paolo; Papi, Laura; Engel, Christoph; Hahnen, Eric; Schmutzler, Rita K.; Wappenschmidt, Barbara; Easton, Douglas F.; Tischkowitz, Marc; Singer, Christian F.; Tan, Yen Yen; Whittemore, Alice S.; Sieh, Weiva; Brenton, James D.; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Soukupova, Jana; Vocka, Michal; Chenevix-Trench, Georgia; Pharoah, Paul D. P.; Antoniou, Antonis C.; Goldgar, David E.; Spurdle, Amanda B.; Michailidou, Kyriaki; Mourits, Marian J. E.; Lesueur, Fabienne
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

拷贝数变异可作为BRCA1/BRCA2致病变异携带者乳腺癌风险的调节剂

COMMUNICATIONS BIOLOGY
IF5.1
2022-10-067
OAAI
Hakkaart, Christopher; Pearson, John F.; Marquart, Louise; Dennis, Joe; Wiggins, George A. R.; Barnes, Daniel R.; Robinson, Bridget A.; Mace, Peter D.; Aittomaki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Belhadj, Sami; Berger, Lieke; Blok, Marinus J.; Boonen, Susanne E.; Borde, Julika; Bradbury, Angela R.; Brunet, Joan; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Chung, Wendy K.; Claes, Kathleen B. M.; Collonge-Rame, Marie-Agnes; Cook, Jackie; Cosgrove, Casey; Couch, Fergus J.; Daly, Mary B.; Dandiker, Sita; Davidson, Rosemarie; de la Hoya, Miguel; de Putter, Robin; Delnatte, Capucine; Dhawan, Mallika; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Easton, Douglas F.; Ehrencrona, Hans; Engel, Christoph; Evans, D. Gareth; Faust, Ulrike; Feliubadalo, Lidia; Fostira, Florentia; Friedman, Eitan; Frone, Megan; Frost, Debra; Garber, Judy; Gayther, Simon A.; Gehrig, Andrea; Gesta, Paul; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hansen, Thomas V. O.; Hauke, Jan; Hentschel, Julia; Herold, Natalie; Honisch, Ellen; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kemp, Zoe; Kirk, Judy; Konstantopoulou, Irene; Koudijs, Marco; Kwong, Ava; Laitman, Yael; Lalloo, Fiona; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martens, John W. M.; McGuffog, Lesley; Mebirouk, Noura; Meindl, Alfons; Miller, Austin; Montagna, Marco; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Nambot, Sophie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yie, Joanne Ngeow Yuen; Nguyen-Dumont, Tu; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Osorio, Ana; Ott, Claus-Eric; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Pocza, Timea; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rodriguez, Gustavo C.; Ronlund, Karina; Rosenberg, Efraim H.; Rossing, Maria; Schmutzler, Rita K.; Shah, Payal D.; Sharif, Saba; Sharma, Priyanka; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Snape, Katie; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Trainer, Alison H.; Tripathi, Vishakha; Tung, Nadine; van Engelen, Klaartje; van Rensburg, Elizabeth J.; Vega, Ana; Viel, Alessandra; Walker, Lisa; Weitzel, Jeffrey N.; Wevers, Marike R.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Antoniou, Antonis C.; Walker, Logan C.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

携带BRCA1和BRCA2致病错义变异体的女性与携带蛋白截断变异体的女性相比，患乳腺癌和卵巢癌的风险

GENETICS IN MEDICINE
IF6.2
2022-01-0117
OAAI
Li, Hongyan; Engel, Christoph; de la Hoya, Miguel; Peterlongo, Paolo; Yannoukakos, Drakoulis; Livraghi, Luca; Radice, Paolo; Thomassen, Mads; Hansen, Thomas V. O.; Gerdes, Anne-Marie; Nielsen, Henriette R.; Caputo, Sandrine M.; Zambelli, Alberto; Borg, Ake; Solano, Angela; Thomas, Abigail; Parsons, Michael T.; Antoniou, Antonis C.; Leslie, Goska; Yang, Xin; Chenevix-Trench, Georgia; Caldes, Trinidad; Kwong, Ava; Pedersen, Inge Sokilde; Lautrup, Charlotte K.; John, Esther M.; Terry, Mary Beth; Hopper, John L.; Southey, Melissa C.; Andrulis, Irene L.; Tischkowitz, Marc; Janavicius, Ramunas; Boonen, Susanne E.; Kroeldrup, Lone; Varesco, Liliana; Hamann, Ute; Vega, Ana; Palmero, Edenir, I; Garber, Judy; Montagna, Marco; Van Asperen, Christi J.; Foretova, Lenka; Greene, Mark H.; Selkirk, Tina; Moller, Pal; Toland, Amanda E.; Domchek, Susan M.; James, Paul A.; Thorne, Heather; Eccles, Diana M.; Nielsen, Sarah M.; Manoukian, Siranoush; Pasini, Barbara; Caligo, Maria A.; Lazaro, Conxi; Kirk, Judy; Wappenschmidt, Barbara; Spurdle, Amanda B.; Couch, Fergus J.; Schmutzler, Rita; Goldgar, David E.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

基于313变异的多基因风险评分对具有杂合BRCA1或BRCA2致病变异的欧洲血统女性对侧乳腺癌风险预测的预测能力

GENETICS IN MEDICINE
IF6.2
2021-09-0120
OAAI
Lakeman, Inge M. M.; van den Broek, Alexandra J.; Vos, Julien A. M.; Barnes, Daniel R.; Adlard, Julian; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K.; Balmana, Judith; Barrowdale, Daniel; Benitez, Javier; Borg, Ake; Caldes, Trinidad; Caligo, Maria A.; Chung, Wendy K.; Claes, Kathleen B. M.; Collee, J. Margriet; Couch, Fergus J.; Daly, Mary B.; Dennis, Joe; Dhawan, Mallika; Domchek, Susan M.; Eeles, Ros; Engel, Christoph; Evans, D. Gareth; Feliubadalo, Lidia; Foretova, Lenka; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; Gayther, Simon A.; Gerdes, Anne-Marie; Godwin, Andrew K.; Goldgar, David E.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hogervorst, Frans B. L.; Hooning, Maartje J.; Hopper, John L.; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; Jensen, Uffe Birk; Jiao, Yue; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kets, Carolien M.; Konstantopoulou, Irene; Kwong, Ava; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Loud, Jennifer T.; Lubinski, Jan; Manoukian, Siranoush; McGuffog, Lesley; Miller, Austin; Gomes, Denise Molina; Montagna, Marco; Mouret-Fourme, Emmanuelle; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yie, Joanne Ngeow Yuen; Olah, Edith; Olopade, Olufunmilayo I.; Park, Sue K.; Parsons, Michael T.; Peterlongo, Paolo; Piedmonte, Marion; Radice, Paolo; Rantala, Johanna; Rennert, Gad; Risch, Harvey A.; Schmutzler, Rita K.; Sharma, Priyanka; Simard, Jacques; Singer, Christian F.; Stadler, Zsofia; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Teule, Alex; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Tung, Nadine; van Rensburg, Elizabeth J.; Vega, Ana; Wappenschmidt, Barbara; Devilee, Peter; van Asperen, Christi J.; Bernstein, Jonine L.; Offit, Kenneth; Easton, Douglas F.; Rookus, Matti A.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Robson, Mark; Schmidt, Marjanka K.
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

使用多基因风险评分的男性BRCA1和BRCA2致病性变异携带者的乳腺癌和前列腺癌风险

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
IF7.2
2021-07-2829
OAAI
Barnes, Daniel R.; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A.; Ahmed, Munaza; Aittomaki, Kristiina; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Barwell, Julian; Belotti, Muriel; Benitez, Javier; Berthet, Pascaline; Boonen, Susanne E.; Borg, Ake; Bozsik, Aniko; Brady, Angela F.; Brennan, Paul; Brewer, Carole; Brunet, Joan; Bucalo, Agostino; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Cassingham, Hayley; Christensen, Lise Lotte; Cini, Giulia; Claes, Kathleen B. M.; Cook, Jackie; Coppa, Anna; Cortesi, Laura; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Putter, Robin; Del Valle, Jesus; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Eeles, Ros; Engel, Christoph; Evans, D. Gareth; Feliubadalo, Lidia; Fostira, Florentia; Frone, Megan; Frost, Debra; Gallagher, David; Gehrig, Andrea; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Gregory, Helen; Gross, Eva; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V. O.; Hanson, Helen; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Izquierdo, Angel; James, Paul A.; Janavicius, Ramunas; Jensen, Uffe Birk; Johannsson, Oskar Th; John, Esther M.; Kramer, Gero; Kroeldrup, Lone; Kruse, Torben A.; Lautrup, Charlotte; Lazaro, Conxi; Lesueur, Fabienne; Lopez-Fernandez, Adria; Mai, Phuong L.; Manoukian, Siranoush; Matrai, Zoltan; Matricardi, Laura; Maxwell, Kara N.; Mebirouk, Noura; Meindl, Alfons; Montagna, Marco; Monteiro, Alvaro N.; Morrison, Patrick J.; Muranen, Taru A.; Murray, Alex; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Tu Nguyen-Dumont; Niederacher, Dieter; Olah, Edith; Olopade, Olufunmilayo, I; Palli, Domenico; Parsons, Michael T.; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth H.; Pinto, Pedro; Porteous, Mary E.; Pottinger, Caroline; Pujana, Miquel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Robson, Mark; Rogers, Mark T.; Ronlund, Karina; Rump, Andreas; Sanchez de Abajo, Ana Maria; Shah, Payal D.; Sharif, Saba; Side, Lucy E.; Singer, Christian F.; Stadler, Zsofia; Steele, Linda; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teule, Alex; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Tommasi, Stefania; Toss, Angela; Trainer, Alison H.; Tripathi, Vishakha; Valentini, Virginia; van Asperen, Christi J.; Venturelli, Marta; Viel, Alessandra; Vijai, Joseph; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Whaite, Anna; Zanna, Ines; Offit, Kenneth; Thomassen, Mads; Couch, Fergus J.; Schmutzler, Rita K.; Simard, Jacques; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Ottini, Laura

研究方向

暂未获取到该数据
M
Marco Montagna
H 指数:52论文数:282被引数:1.0万
P
Paolo Radice
H 指数:91论文数:651被引数:3.7万
G
Georgia Chenevix‐Trench
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P
Paolo Peterlongo
H 指数:72论文数:395被引数:2.3万
K
Katherine L. Nathanson
H 指数:115论文数:1,165被引数:5.1万
J
Jacques Simard
H 指数:98论文数:715被引数:4.5万
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Ana Osório
H 指数:66论文数:306被引数:1.6万
I
Irene L. Andrulis
H 指数:107论文数:907被引数:4.8万
H
Heli Nevanlinna
H 指数:106论文数:718被引数:5.0万
E
Esther M. John
H 指数:132论文数:1,525被引数:7.6万