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M

Minna Pekkinen

university of helsinki
H指数:26
被引数:2,013

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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

双等位基因KIF24变体负责一系列骨骼疾病，从致死性骨骼纤毛病到严重的肢端细胞发育不良

JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2022-06-248
OAAI
Reilly, Madeline Louise; ul Ain, Noor; Muurinen, Mari; Tata, Alice; Huber, Celine; Simon, Marleen; Ishaq, Tayyaba; Shaw, Nick; Rusanen, Salla; Pekkinen, Minna; Hogler, Wolfgang; Knapen, Maarten F. C. M.; van den Born, Myrthe; Saunier, Sophie; Naz, Sadaf; Cormier-Daire, Valerie; Benmerah, Alexandre; Makitie, Outi
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility
JBMR PLUS
IF2.4
2021-06-079
OAAI
Makitie, Riikka E.; Henning, Petra; Jiu, Yaming; Kampe, Anders; Kogan, Konstantin; Costantini, Alice; Valimaki, Ville-Valtteri; Medina-Gomez, Carolina; Pekkinen, Minna; Salusky, Isidro B.; Schalin-Jantti, Camilla; Haanpaa, Maria K.; Rivadeneira, Fernando; Bassett, John H. Duncan; Williams, Graham R.; Lerner, Ulf H.; Pereira, Renata C.; Lappalainen, Pekka; Makitie, Outi
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
JCI INSIGHT
IF6.1
2019-04-0454
OAAI
Pekkinen, Minna; Terhal, Paulien A.; Botto, Lorenzo D.; Henning, Petra; Makitie, Riikka E.; Roschger, Paul; Jain, Amrita; Kol, Matthijs; Kjellberg, Matti A.; Paschalis, Eleftherios P.; van Lassen, Koen; Murray, Mary; Bayrak-Toydemir, Pinar; Magnusson, Maria K.; Jans, Judith; Kausar, Mehran; Carey, John C.; Somerharju, Pentti; Lerner, Ulf H.; Olkkonen, Vesa M.; Klaushofer, Klaus; Holthuis, Joost C. M.; Makitie, Outi

研究方向

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O
Outi Mäkitie
H 指数:66论文数:584被引数:1.7万
C
Christel Lamberg‐Allardt
H 指数:65论文数:272被引数:1.5万
R
Riikka E. Mäkitie
H 指数:20论文数:66被引数:981
H
Heli Viljakainen
H 指数:36论文数:159被引数:3,923
M
Minna Huttunen
H 指数:10论文数:23被引数:696
M
Mikael Ahlström
H 指数:12论文数:30被引数:351
S
Sture Andersson
H 指数:51论文数:385被引数:9,317
C
Christine Lainé
H 指数:50论文数:357被引数:1.1万
A
Anders Kämpe
H 指数:16论文数:58被引数:750
E
Elisa Holmlund‐Suila
H 指数:16论文数:52被引数:691