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- [22] Functional Study of a Novel Mutation in Crtap Gene Causing Recessive Osteogenesis ImperfectaENDOCRINE REVIEWS, 2014, 35 (03)Snabboon, Thiti论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Bangkok, Thailand Chulalongkorn Univ, Bangkok, ThailandHoungngam, Natnicha论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Hormonal & Metab Disorders Res Unit, Bangkok, Thailand Chulalongkorn Univ, Bangkok, ThailandWattanachanya, Lalita论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Bangkok, Thailand Chulalongkorn Univ, Bangkok, Thailand
- [23] Lethal recessive form of osteogenesis imperfecta (oi) due to a mutation in lepre geneHORMONE RESEARCH, 2008, 70 : 193 - 193Lou, Gracia Maria论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, SpainLabarta, Jose Ignacio论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, SpainGimenez, Virginia论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, SpainPerez, Alberto论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, SpainCalvo, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, SpainMayayo, Esteban论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, SpainFerrandez, Angel论文数: 0 引用数: 0 h-index: 0机构: Miguel Servet Hosp, Zaragoza, Spain Miguel Servet Hosp, Zaragoza, Spain
- [24] Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropiaMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (08):Chen, Peng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaChen, Jiaxi论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaYang, Zhantao论文数: 0 引用数: 0 h-index: 0机构: Dian Diagnost Grp Co Ltd, Continuing Med Educ & Res Ctr, Hangzhou, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaLu, Yang论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaShen, Liping论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaZhou, Kai论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaYe, Shenyi论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R ChinaShen, Bo论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Lin Hai, Peoples R China
- [25] New recessive osteogenesis-imperfecta-like bone disorder caused by LEPRE1 mutationNature Clinical Practice Rheumatology, 2007, 3 (5): : 252 - 252
- [26] CRTAP and LEPRE1 Mutations in Recessive Osteogenesis ImperfectaHUMAN MUTATION, 2008, 29 (12) : 1435 - 1442Baldridge, Dustin论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchwarze, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMorello, Roy论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALennington, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABertin, Terry K.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPace, James M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPepin, Melanie G.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWeis, MaryAnn论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAEyre, David R.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWalsh, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALambert, Deborah论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland Childrens Univ Hosp, Dublin, Ireland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGreen, Andrew论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland Univ Coll Dublin, Sch Med & Med Sci, Dublin 2, Ireland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARobinson, Haynes论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Genet Ctr, Akron, OH USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMichelson, Melonie论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Genet Ctr, Akron, OH USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHouge, Gunnar论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALindman, Carl论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, Kristiansund Sykehus, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMartin, Judith论文数: 0 引用数: 0 h-index: 0机构: Inland NW Genet Clin, Spokane, WA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWard, Jewell论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Div Med Genet, Memphis, TN USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALemyre, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pediat, CHU Ste Justine, Serv Genet Med, Montreal, PQ, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMitchell, John J.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Div Med Genet, Montreal, PQ, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKrakow, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARimoin, David L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACohn, Daniel H.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAByers, Peter H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pathol, Seattle, WA 98195 USA Univ Washington, Dept Med, Seattle, WA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Howard Hughes Med Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [27] Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3PEDIATRIC RESEARCH, 2017, 82 (05) : 753 - 758Umair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanAlhaddad, Bader论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Dept Human Genet, Munich, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanRafique, Afzal论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanJan, Abid论文数: 0 引用数: 0 h-index: 0机构: Kohat Univ Sci & Technol, Dept Biotechnol, Kohat, Khyber Pakhtunk, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Dept Human Genet, Munich, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanUllah, Asmat论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanAhmad, Farooq论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Dept Human Genet, Munich, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, PakistanMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Dept Human Genet, Munich, Germany Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan论文数: 引用数: h-index:机构:
- [28] Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3Pediatric Research, 2017, 82 : 753 - 758Muhammad Umair论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryBader Alhaddad论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryAfzal Rafique论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryAbid Jan论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryTobias B Haack论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryElisabeth Graf论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryAsmat Ullah论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryFarooq Ahmad论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryTim M Strom论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryThomas Meitinger论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of BiochemistryWasim Ahmad论文数: 0 引用数: 0 h-index: 0机构: Faculty of Biological Sciences,Department of Biochemistry
- [29] A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis ImperfectaHUMAN MUTATION, 2013, 34 (04) : 582 - 586Volodarsky, Michael论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, Israel论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Staretz-Chacham, Orna论文数: 0 引用数: 0 h-index: 0机构: Soroka Med Ctr, Div Pediat, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, IsraelFlusser, Hagit论文数: 0 引用数: 0 h-index: 0机构: Soroka Med Ctr, Div Pediat, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, IsraelLandau, Daniella论文数: 0 引用数: 0 h-index: 0机构: Soroka Med Ctr, Div Pediat, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, IsraelShelef, Ilan论文数: 0 引用数: 0 h-index: 0机构: Soroka Med Ctr, Diagnost Imaging Inst, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, IsraelLanger, Yshaia论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Soroka Med Ctr, Genet Inst, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, IsraelBirk, Ohad S.论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Soroka Med Ctr, Genet Inst, IL-84101 Beer Sheva, Israel Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, NIBN, IL-84105 Beer Sheva, Israel
- [30] Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis ImperfectaHUMAN MUTATION, 2012, 33 (02) : 343 - 350Martinez-Glez, Victor论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainValencia, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainCaparros-Martin, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainAglan, Mona论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Div, Cairo, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainTemtamy, Samia论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Genet & Genome Res Div, Cairo, Egypt Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainTenorio, Jair论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainPulido, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainLindert, Uschi论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Metab, Connect Tissue Unit, Zurich, Switzerland Childrens Res Ctr, Zurich, Switzerland Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainRohrbach, Marianne论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Metab, Connect Tissue Unit, Zurich, Switzerland Childrens Res Ctr, Zurich, Switzerland Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainEyre, David论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainGiunta, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Metab, Connect Tissue Unit, Zurich, Switzerland Childrens Res Ctr, Zurich, Switzerland Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid 28029, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, SpainRuiz-Perez, Victor L.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed, Madrid 28029, Spain