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K

Kristiina Lillepea

Biomedicine and Translational Medicine
H指数:5
被引数:111

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Identification of missense DMC1 variants in males with non-obstructive azoospermia

在非梗阻性无精子症男性中鉴定错义DMC1变异

Journal of Assisted Reproduction and Genetics
IF2.7
2025-08-150
OAAI
Noor Ullah; Christopher Pombar; Rachel Hvasta-Gloria; Andrea J. Berman; Michelle Malizio; Muhammad Jaseem Khan; Rubina Nazli; Sadia Fatima; Antoni Riera-Escamilla; Helen Castillo-Madeen; Agnieszka Malcher; Marta Olszewska; Miguel J. Xavier; Kristiina Lillepea; Avirup Dutta; Carlos A. Castro; Anu Valkna; Rain Inno; Kyle E. Orwig; Donald F. Conrad; Maciej Kurpisz; Joris A. Veltman; Maris Laan; Alexander N. Yatsenko
Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility

由杂合DM结构域突变引起的DMRT1的DNA结合亲和力降低是男性不育的原因

HUMAN MOLECULAR GENETICS
IF3.2
2025-01-080
PRE
Maric, Tihana; Castillo-Madeen, Helen; Klaric, Monika Logara; Barisic, Antun; Trgovec-Greif, Lovro; Murphy, Mark W.; Juchnewitsch, Anna-Grete; Lillepea, Kristiina; Dutta, Avirup; Zunic, Lucija; Stendahl, Alexandra M.; Punab, Margus; Pomm, Kristjan; Mendoza, Daniel M.; Lopes, Alexandra M.; Sorgic, Ana Merkler; Vugrek, Oliver; Goncalves, Joao; Almstrup, Kristian; Aston, Kenneth, I; Beluzic, Robert; Jezek, Davor; Bertosa, Branimir; Laan, Maris; Bojanac, Ana Katusic; Conrad, Donald F.; Barbalic, Maja
Toward clinical exomes in diagnostics and management of male infertility
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-05-018
PRE
Lillepea, Kristiina; Juchnewitsch, Anna-Grete; Kasak, Laura; Valkna, Anu; Dutta, Avirup; Pomm, Kristjan; Poolamets, Olev; Nagirnaja, Liina; Tamp, Erik; Mahyari, Eisa; Vihljajev, Vladimir; Tjagur, Stanislav; Papadimitriou, Sofia; Riera-Escamilla, Antoni; Versbraegen, Nassim; Farnetani, Ginevra; Castillo-Madeen, Helen; Sutt, Mailis; Kubarsepp, Viljo; Tennisberg, Sven; Korrovits, Paul; Krausz, Csilla; Aston, Kenneth I.; Lenaerts, Tom; Conrad, Donald F.; Punab, Margus; Laan, Maris
Undiagnosed RASopathies in infertile men
FRONTIERS IN ENDOCRINOLOGY
IF4.6
2024-04-092
OAAI
Juchnewitsch, Anna-Grete; Pomm, Kristjan; Dutta, Avirup; Tamp, Erik; Valkna, Anu; Lillepea, Kristiina; Mahyari, Eisa; Tjagur, Stanislav; Belova, Galina; Kubarsepp, Viljo; Castillo-Madeen, Helen; Riera-Escamilla, Antoni; Polluaas, Lisanna; Nagirnaja, Liina; Poolamets, Olev; Vihljajev, Vladimir; Sutt, Mailis; Versbraegen, Nassim; Papadimitriou, Sofia; McLachlan, Robert I.; Jarvi, Keith A.; Schlegel, Peter N.; Tennisberg, Sven; Korrovits, Paul; Vigh-Conrad, Katinka; O'Bryan, Moira K.; Aston, Kenneth I.; Lenaerts, Tom; Conrad, Donald F.; Kasak, Laura; Punab, Margus; Laan, Maris

研究方向

暂未获取到该数据
D
Donald F. Conrad
H 指数:52论文数:183被引数:2.9万
A
Avirup Dutta
H 指数:13论文数:42被引数:1,091
M
Maris Laan
H 指数:50论文数:221被引数:1.3万
M
Margus Punab
H 指数:62论文数:269被引数:3.5万
K
Kenneth I. Aston
H 指数:44论文数:231被引数:7,537
K
Kristjan Pomm
H 指数:7论文数:12被引数:521
H
Helen Castillo‐Madeen
H 指数:3论文数:16被引数:79
A
Anna-Grete Juchnewitsch
H 指数:3论文数:9被引数:66
A
Anu Valkna
H 指数:3论文数:10被引数:66
L
Liina Nagirnaja
H 指数:25论文数:61被引数:2,163