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M.论文数: 0 引用数: 0 h-index: 0机构: Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsFranken, Anton A. M.论文数: 0 引用数: 0 h-index: 0机构: Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, Netherlandsvan der Sar, Astrid M.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Med Microbiol & Infect Control, Amsterdam UMC, Amsterdam, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsMeijers-Heijboer, Hanne论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, NL-1081 BT Amsterdam, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsHeath, Karen E.论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz IdiPaz, Madrid 28046, Spain Univ Autonoma Madrid, Hosp Univ La Paz, Skeletal Dysplasia Multidisciplinary Unit UMDE, Madrid 28046, Spain Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz IdiPaz, Madrid 28046, Spain Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsNikkels, Peter G. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Pathol, Utrecht, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsNuechel, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Univ Hosp Cologne, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Biochem, D-50931 Cologne, Germany Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsPlomann, Markus论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Univ Hosp Cologne, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Biochem, D-50931 Cologne, Germany Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsWagener, Raimund论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Univ Hosp Cologne, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Biochem, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, Netherlands论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Eekhoff, Elisabeth M. W.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Internal Med, Amsterdam UMC, Amsterdam Movement Sci,Sect Endocrinol, Amsterdam, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsPals, Gerard论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, NL-1081 BT Amsterdam, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsMorgelin, Matthias论文数: 0 引用数: 0 h-index: 0机构: Colzyx AB, S-22381 Lund, Sweden Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsNewstead, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Biochem, South Parks Rd, Oxford OX1 3QU, England Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsWilson, Brian T.论文数: 0 引用数: 0 h-index: 0机构: London North West Hlth Care Univ NHS Trust, North West Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England Newcastle Univ, Int Ctr Life, Biosci Inst, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsRuiz-Perez, Victor L.论文数: 0 引用数: 0 h-index: 0机构: CSIC UAM, Inst Invest Biomed Alberto Sols IIBM, Madrid 28029, Spain ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz IdiPaz, Madrid 28046, Spain Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsMaugeri, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, NL-1081 BT Amsterdam, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsNetzer, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Univ Hosp Cologne, D-50931 Cologne, Germany Univ Cologne, Univ Hosp Cologne, Ctr Rare Dis, D-50931 Cologne, Germany Univ Cologne, Fac Med, Inst Human Genet, D-50931 Cologne, Germany Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsZaucke, Frank论文数: 0 引用数: 0 h-index: 0机构: Orthopaed Univ Hosp Friedrichsheim gGmbH, Dr Rolf M Schwiete Res Unit Osteoarthrit, D-60528 Frankfurt, Germany Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, NetherlandsMicha, Dimitra论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, NL-1081 BT Amsterdam, Netherlands Isala Hosp, Expert Ctr Adults Osteogenesis Imperfecta, NL-10400 Zwolle, Netherlands
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- [49] Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstructionCLINICAL GENETICS, 2021, 99 (03) : 430 - 436Matera, Ivana论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyBordo, Domenico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Policlin San Martino, Genoa, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyDi Duca, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOC Genet Med, Genoa, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyLerone, Margherita论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOC Genet Med, Genoa, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalySantamaria, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyPongiglione, Marta论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOC Radiol, Genoa, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyLezo, Antonella论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Regina Margherita, Dietet & Clin Nutr Unit, Turin, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyDiamanti, Antonella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Osped Pediatr Bambino Gesu, UOS Nutr Artificiale, Rome, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalySpagnuolo, Maria Immacolata论文数: 0 引用数: 0 h-index: 0机构: Univ Federico II, Dip Sci Med Traslazionali, Naples, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyPrato, Alessio Pini论文数: 0 引用数: 0 h-index: 0机构: AON SS Antonio & Biagio & Cesare Arrigo, UO Chirurg Pediat, Alessandria, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyAlberti, Daniele论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili Brescia, UO Chirurg Pediat, Brescia, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyMattioli, Girolamo论文数: 0 引用数: 0 h-index: 0机构: UOC Chirurg Pediat, Milan, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyGandullia, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOC Gastroenterol, Genoa, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, ItalyCeccherini, Isabella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, Italy IRCCS Ist Giannina Gaslini, UOSD Genet & Genom Malattie Rare, I-16148 Genoa 5, Italy
- [50] Bi-allelic variants in genes related to piRNA biogenesis are a major cause for male infertilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 68 - 68Stallmeyer, Birgit论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Reprod Genet, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyBuehlmann, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Reprod Genet, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyDicke, Ann-Kristin论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Reprod Genet, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyRotte, Nadja论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Reprod Genet, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyWyrwoll, Margot Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Reprod Genet, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyKliesch, Sabine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Munster, Ctr Reprod Med & Androl, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyNeuhaus, Nina论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Munster, Ctr Reprod Med & Androl, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, GermanyTuettelmann, Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Inst Reprod Genet, Munster, Germany Univ Munster, Inst Reprod Genet, Munster, Germany