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- [1] Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal ArthrogryposisAMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (02) : 293 - 310Chong, Jessica X.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Brotman Baty Inst, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USATalbot, Jared C.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Mol Genet, Columbus, OH 43210 USA Ctr Muscle Hlth & Neuromuscular Disorders, Columbus, OH 43210 USA Univ Maine, Sch Biol & Ecol, Orono, ME 04469 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USATeets, Emily M.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Mol Genet, Columbus, OH 43210 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAPrevis, Samantha论文数: 0 引用数: 0 h-index: 0机构: Univ Vermont, Dept Mol Physiol & Biophys, Burlington, VT 05405 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMartin, Brit L.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Physiol & Cell Biol, Columbus, OH 43210 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAShively, Kathryn M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMarvin, Colby T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAAylsworth, Arthur S.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Pediat, Chapel Hill, NC 27599 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USASaadeh-Haddad, Reem论文数: 0 引用数: 0 h-index: 0机构: Medstar Georgetown Univ Hosp, Dept Pediat, Div Genet, Washington, DC 20007 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USASchatz, Ulrich A.论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Human Genet, A-6020 Innsbruck, Austria Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAInzana, Francesca论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp Bolzano, Dept Pediat, Genet Counseling Serv, I-39100 Bolzano, Italy Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USABen-Omran, Tawfeg论文数: 0 引用数: 0 h-index: 0机构: Sidra Med & Hamad Med Corp, Div Genet & Genom Med, POB 3050, Doha, Qatar Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAAlmusafri, Fatima论文数: 0 引用数: 0 h-index: 0机构: Sidra Med & Hamad Med Corp, Div Genet & Genom Med, POB 3050, Doha, Qatar Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAAl-Mulla, Mariam论文数: 0 引用数: 0 h-index: 0机构: Sidra Med & Hamad Med Corp, Div Genet & Genom Med, POB 3050, Doha, Qatar Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USABuckingham, Kati J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAHarel, Tamar论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Genet, IL-91120 Jerusalem, Israel Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAMor-Shaked, Hagar论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Genet, IL-91120 Jerusalem, Israel Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USARadhakrishnan, Periyasamy论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAGirisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USANayak, Shalini S.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USADieterich, Klaus论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble Alpes, Genet Med, Dept Med Genet, F-38700 Grenoble, France Univ Grenoble Alpes, Grenoble Inst Neurosci, U1216, INSERM, F-38706 Grenoble, France Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAFaure, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble Alpes, Grenoble Inst Neurosci, U1216, INSERM, F-38706 Grenoble, France CHU Grenoble Alpes, Biochim Genet & Mol, F-38700 Grenoble, France Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USARendu, John论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble Alpes, Grenoble Inst Neurosci, U1216, INSERM, F-38706 Grenoble, France CHU Grenoble Alpes, Biochim Genet & Mol, F-38700 Grenoble, France Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USACapri, Yline论文数: 0 引用数: 0 h-index: 0机构: Robert DEBRE Univ Hosp, AP HP, Dept Genet, UF Genet Clin, F-75019 Paris, France Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USALatypova, Xenia论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble Alpes, Grenoble Inst Neurosci, U1216, INSERM, F-38706 Grenoble, France CHU Grenoble Alpes, Biochim Genet & Mol, F-38700 Grenoble, France Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USANickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Brotman Baty Inst, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAWarshaw, David M.论文数: 0 引用数: 0 h-index: 0机构: Univ Vermont, Dept Mol Physiol & Biophys, Burlington, VT 05405 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAJanssen, Paul M. L.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Physiol & Cell Biol, Columbus, OH 43210 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USAAmacher, Sharon L.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Mol Genet, Columbus, OH 43210 USA Ctr Muscle Hlth & Neuromuscular Disorders, Columbus, OH 43210 USA Ohio State Univ, Dept Biol Chem & Pharmacol, Columbus, OH 43210 USA Ohio State Univ, Ctr RNA Biol, Columbus, OH 43210 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USABamshad, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Brotman Baty Inst, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Seattle Childrens Hosp, Seattle, WA 98105 USA Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA
- [2] Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisGENETICS IN MEDICINE, 2022, 24 (10) : 2187 - 2193Boschann, Felix论文数: 0 引用数: 0 h-index: 0机构: Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyCogulu, Muhsin O.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Pediat Genet, Fac Med, Izmir, Turkey Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyPehlivan, Davut论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Pediat Neurol & Dev Neurosci, Houston, TX 77030 USA Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBalachandran, Saranya论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Kiel, Inst Human Genet, Kiel, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyVallecillo-Garcia, Pedro论文数: 0 引用数: 0 h-index: 0机构: Free Univ Berlin, Inst Biochem, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyGrochowski, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyHansmeier, Nils R.论文数: 0 引用数: 0 h-index: 0机构: Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, BCRT, Berlin, Germany Berlin Inst Hlth, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyAkdemir, Zeynep H. Coban论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, UTHlth Sch Publ Hlth, Dept Epidemiol Human Genet & Environm Sci, Houston, TX USA Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyPrada-Medina, Cesar A.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany论文数: 引用数: h-index:机构:Fischer-Zirnsak, Bjorn论文数: 0 引用数: 0 h-index: 0机构: Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBadura, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Interdisciplinary Pediat Ctr Children Dev Disabil, Gottingen, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyDurmaz, Burak论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Pediat Genet, Fac Med, Izmir, Turkey Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyOzkinay, Ferda论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyHaegerling, Rene论文数: 0 引用数: 0 h-index: 0机构: Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, BCRT, Berlin, Germany Berlin Inst Hlth, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyPosey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyStricker, Sigmar论文数: 0 引用数: 0 h-index: 0机构: Free Univ Berlin, Inst Biochem, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany论文数: 引用数: h-index:机构:Horn, Denise论文数: 0 引用数: 0 h-index: 0机构: Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBrockmann, Knut论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Interdisciplinary Pediat Ctr Children Dev Disabil, Gottingen, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyLupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyKornak, Uwe论文数: 0 引用数: 0 h-index: 0机构: Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Univ Med Ctr Gottingen, Inst Human Genet, Heinrich Duker Weg 12, D-37073 Gottingen, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanySchmidt, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Med Ctr Gottingen, Inst Human Genet, Heinrich Duker Weg 12, D-37073 Gottingen, Germany Charit Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany
- [3] Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022)GENETICS IN MEDICINE, 2023, 25 (05)Boschann, Felix论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany论文数: 引用数: h-index:机构:Pehlivan, Davut论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Sect Pediat Neurol & Dev Neurosci, Dept Pediat, Houston, TX USA Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBalachandran, Saranya论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Kiel, Inst Human Genet, Kiel, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyVallecillo-Garcia, Pedro论文数: 0 引用数: 0 h-index: 0机构: Free Univ Berlin, Inst Biochem, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyGrochowski, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyHansmeier, Nils R.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, BIH Ctr Regenerat Therapies BCRT, Berlin, Germany Humboldt Univ, Freie Univ Berlin, Berlin, Germany Berlin Inst Hlth, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyAkdemir, Zeynep H. Coban论文数: 0 引用数: 0 h-index: 0机构: UTHealth Sch Publ Hlth, Dept Epidemiol Human Genet & Environm Sci, Houston, TX USA Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyPrada-Medina, Cesar A.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany论文数: 引用数: h-index:机构:Fischer-Zirnsak, Bjoern论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBadura, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Interdisciplinary Pediat Ctr Children Dev Disabil, Gottingen, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyDurmaz, Burak论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Pediat Genet, Fac Med, Izmir, Turkiye Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyOzkinay, Ferda论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Med Genet, Fac Med, Izmir, Turkiye Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyHaegerling, Rene论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Charite Univ Med Berlin, BIH Ctr Regenerat Therapies BCRT, Berlin, Germany Humboldt Univ, Freie Univ Berlin, Berlin, Germany Berlin Inst Hlth, Berlin, Germany UTHealth Sch Publ Hlth, Dept Epidemiol Human Genet & Environm Sci, Houston, TX USA Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyPosey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyStricker, Sigmar论文数: 0 引用数: 0 h-index: 0机构: Free Univ Berlin, Inst Biochem, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany论文数: 引用数: h-index:机构:Horn, Denise论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBrockmann, Knut论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Interdisciplinary Pediat Ctr Children Dev Disabil, Gottingen, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyLupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyKornak, Uwe论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Free Univ Berlin, Berlin, Germany Humboldt Univ, Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, Berlin, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanySchmidt, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany
- [4] Truncating variants in the paternally expressed allele of MAGEL2 as a common cause of syndromic distal arthrogryposisEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 364 - 364Pacio Miguez, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainSantos-Simarro, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainGarcia-Minaur, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainTirado Requero, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Serv Neurol Infantil, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainVallespin, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spaindel Pozo, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainSolis, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainRodriguez Galiano, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainMartin Arenas, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainGonzalez Pecellin, H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainRufo Rabadan, V.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainGalan, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Materno Infantil, Dept Pediat, Badajoz, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainMartinez Bermejo, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Serv Neurol Infantil, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainSalamanca Fresno, L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Serv Endocrinol Pediat, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainLapunzina Badia, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, SpainPalomares-Bralo, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain ISCIII, CIBERER, Madrid, Spain Hosp Univ La Paz, IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain
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