共 34 条
- [21] The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial functionHUMAN MUTATION, 2019, 40 (03) : 299 - 309Girisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, India Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, Indiavon Elsner, Leonie论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, IndiaNeethukrishna, Kausthubham论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, India Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, IndiaMuranjan, Mamta论文数: 0 引用数: 0 h-index: 0机构: Seth GS Med Coll, Dept Clin Genet, Mumbai, India King Edward Mem Hosp, Bombay, India PD Hinduja Natl Hosp, Clin Genet, Mumbai, India MRC, Mumbai, India Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, IndiaShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, India Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, IndiaBhavani, Gandham SriLakshmi论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, India Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, IndiaNishimura, Gen论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Pediat Imaging, Fuchu, Tokyo, Japan Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, IndiaKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, India论文数: 引用数: h-index:机构:
- [22] Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case reportPEDIATRIC RHEUMATOLOGY, 2021, 19 (01)Goulielmos, George N.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Sect Mol Pathol & Human Genet, Dept Internal Med, Iraklion, Greece Univ Hosp Herakl, Dept Internal Med, Iraklion, Greece Univ Crete, Sch Med, Sect Mol Pathol & Human Genet, Dept Internal Med, Iraklion, GreeceZervou, Maria I.论文数: 0 引用数: 0 h-index: 0机构: Univ Crete, Sch Med, Sect Mol Pathol & Human Genet, Dept Internal Med, Iraklion, Greece Univ Crete, Sch Med, Sect Mol Pathol & Human Genet, Dept Internal Med, Iraklion, GreeceEliopoulos, Elias论文数: 0 引用数: 0 h-index: 0机构: Agr Univ Athens, Dept Biotechnol, Genet Lab, Athens, Greece Univ Crete, Sch Med, Sect Mol Pathol & Human Genet, Dept Internal Med, Iraklion, Greece
- [23] Comment on: homozygous variant p. Arg90His in NCF1 is associated with early-onset interferonopathy: a case reportPediatric Rheumatology, 19George N. Goulielmos论文数: 0 引用数: 0 h-index: 0机构: University of Crete,Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of MedicineMaria I. Zervou论文数: 0 引用数: 0 h-index: 0机构: University of Crete,Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of MedicineElias Eliopoulos论文数: 0 引用数: 0 h-index: 0机构: University of Crete,Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine
- [24] The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial functionEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1162 - 1162von Elsner, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyGirisha, K. M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyNeethukrishna, K.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyMuranjan, M.论文数: 0 引用数: 0 h-index: 0机构: Dept ment Clin Genet, Seth GS Med Coll & KEM Hosp, Mumbai, Maharashtra, India P Hinduja Natl Hosp MRC, Consultant Clin Genet, Mumbai, Maharashtra, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyShukla, A.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyBhavani, G. S.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Dept Med Genet, Kasturba Med Coll, Manipal, India Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyNishimura, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKutsche, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyMortier, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
- [25] Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesJOURNAL OF NEUROMUSCULAR DISEASES, 2021, 8 (04) : 633 - 645Villar-Quiles, Rocio N.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceDonkervoort, Sandra论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, Francede Becdelievre, Alix论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, AP HP, Dept Genet, Creteil, France GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France论文数: 引用数: h-index:机构:Jobic, Valerie论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMcCarty, Riley M.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceHu, Ying论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMenassa, Rita论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Biochim Biol Mol Grand Est, CBPE,LBMMS, Bron, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMichel, Laurence论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Biochim Biol Mol Grand Est, CBPE,LBMMS, Bron, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceGousse, Gaelle论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Neuropediat, St Etienne, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceLacour, Arnaud论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Serv Neurol, St Etienne, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FrancePetiot, Philippe论文数: 0 引用数: 0 h-index: 0机构: Hop Croix Rousse, Neurol & Explorat Fonctionnelles Neurol, Ctr Reference Malad Neuromusculaires Reg Rhone Al, Lyon, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceStreichenberger, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Ctr Pathol & Neuropathol Est, Bron, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceChoumert, Ariane论文数: 0 引用数: 0 h-index: 0机构: CHU Sud Reunion, Ctr Malad Rares Neurol, St Pierre, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceDeclerck, Lea论文数: 0 引用数: 0 h-index: 0机构: CHU Sud Reunion, Ctr Malad Rares Neurol, St Pierre, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceUrtizberea, J. A.论文数: 0 引用数: 0 h-index: 0机构: Hop Marin, Ctr Competence Neuromusculaire, Hendaye, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceSole, Guilhem论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Ctr Reference Malad Neuromusculaires AOC, Hop Pellegrin, Bordeaux, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceFurby, Alain论文数: 0 引用数: 0 h-index: 0机构: CHU St Etienne, Hop Nord, Ctr Reference Malad Neuromusculaires Rares Rhones, St Etienne, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceCerino, Matthieu论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop Conception, AP HM, Lab Biochim, Marseille, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceKrahn, Martin论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceCampana-Salort, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Hop La Timone, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France论文数: 引用数: h-index:机构:Eymard, Bruno论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceBonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceBharucha-Goebel, Diana论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Childrens Natl Hosp, Div Neurol, Washington, DC USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceSumner, Charlotte J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceConnolly, Anne M.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Nationwide Childrens Hosp, Neurol Div, Columbus, OH 43210 USA Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceRichard, Pascale论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceAllamand, Valerie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France Lund Univ, Dept Expt Med Sci, Unit Muscle Biol, Lund, Sweden Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceMetay, Corinne论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France GH Pitie Salpetriere, AP HP, UF Cardiogenet & Myogenet Mol & Cellulaire, Ctr Genet Mol & Chromosom, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, FranceStojkovic, Tanya论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France Sorbonne Univ, Ctr Rech Myol, Inst Myol, INSERM, Paris, France Hop La Pitie Salpetriere, AP HP, Reference Ctr Neuromuscular Disorders, Paris, France
- [26] Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys)STEM CELL RESEARCH, 2022, 60Cha, Yun-Ji论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Kim, Sangwoo论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Dept Biomed Syst Informat, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Coll Med, Brain Korea 21 Plus Project Med Sci, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South KoreaKim, Hyoeun论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South KoreaChoi, Jungyoon论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South KoreaChoi, Hyo-Kyoung论文数: 0 引用数: 0 h-index: 0机构: Korea Food Res Inst, Res Grp Healthcare, Wanju Gun 55365, Jeollabuk Do, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South KoreaWon, Dongju论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Lab Med, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South KoreaChoi, Jong Rak论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Lab Med, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea论文数: 引用数: h-index:机构:Park, Sahng Wook论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Biochem & Mol Biol, Coll Med,Brain Korea 21 Project, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea论文数: 引用数: h-index:机构:Lee, Seung-Hyun论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Grad Sch Med Sci, Dept Biochem & Mol Biol, Coll Med,Brain Korea 21 Project, 50-1 Yonsei Ro, Seoul 03722, South Korea Yonsei Univ, Dept Biochem & Mol Biol, Coll Med, 50-1 Yonsei Ro, Seoul 03722, South Korea
- [27] A second family with multiple epiphyseal dysplasia type 7 caused by the homozygous variant c.676G>A p.(Val226Met) in CANT1EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1384 - 1384Travessa, Andre论文数: 0 引用数: 0 h-index: 0机构: ULS Santa Maria, Dept Med Genet, Lisbon, Portugal ULS Santa Maria, ERN BOND, Lisbon, Portugal Univ Lisbon, Fac Med, Lisbon, Portugal ULS Santa Maria, Dept Med Genet, Lisbon, PortugalModamio-Hoybjor, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid UAM, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz, IdiPAZ, Madrid, Spain ISCIII, CIBERER, Madrid, Spain UAM, Skeletal Dysplasia Multidisciplinary Unit UMDE, Hosp Univ La Paz, Madrid, Spain UAM, Hosp Univ La Paz, ERN BOND, Madrid, Spain ULS Santa Maria, Dept Med Genet, Lisbon, PortugalBrites, Luisa论文数: 0 引用数: 0 h-index: 0机构: ULS Regiao Leiria, Dept Rheumatol, Leiria, Portugal ULS Santa Maria, Dept Med Genet, Lisbon, PortugalBeltran, Miguel论文数: 0 引用数: 0 h-index: 0机构: ULS Santa Maria, Dept Orthopaed Surg, Lisbon, Portugal ULS Santa Maria, Dept Med Genet, Lisbon, PortugalHeath, Karen E.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid UAM, Inst Med & Mol Genet INGEMM, Hosp Univ La Paz, IdiPAZ, Madrid, Spain ISCIII, CIBERER, Madrid, Spain UAM, Skeletal Dysplasia Multidisciplinary Unit UMDE, Hosp Univ La Paz, Madrid, Spain UAM, Hosp Univ La Paz, ERN BOND, Madrid, Spain ULS Santa Maria, Dept Med Genet, Lisbon, PortugalSousa, Ana Berta论文数: 0 引用数: 0 h-index: 0机构: ULS Santa Maria, Dept Med Genet, Lisbon, Portugal ULS Santa Maria, ERN BOND, Lisbon, Portugal Univ Lisbon, Fac Med, Lisbon, Portugal ULS Santa Maria, Dept Med Genet, Lisbon, Portugal
- [28] Novel, homozygous RAB3GAP1 c.2606+1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndromeCLINICAL DYSMORPHOLOGY, 2023, 32 (02) : 55 - 61论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Sager, Gunes论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Sch Med, Dept Pediat Neurol, Istanbul, Turkiye Kartal Dr Lutfi Kirdar City Hosp, Pediat Neurol, Istanbul, Turkiye Marmara Univ, Sch Med, Dept Med Genet, TR-34890 Istanbul, Turkiye论文数: 引用数: h-index:机构:Soylemez, Mehmet Ali论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Sch Med, Dept Med Genet, TR-34890 Istanbul, Turkiye Marmara Univ, Sch Med, Dept Med Genet, TR-34890 Istanbul, TurkiyeArman, Ahmet论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Sch Med, Dept Med Genet, TR-34890 Istanbul, Turkiye Marmara Univ, Sch Med, Dept Med Genet, TR-34890 Istanbul, Turkiye
- [29] Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case reportFRONTIERS IN ONCOLOGY, 2023, 13Akrout, Firas论文数: 0 引用数: 0 h-index: 0机构: Mil Hosp Tunis, Dept Neurosurg, Tunis, Tunisia Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaAchour, Ahlem论文数: 0 引用数: 0 h-index: 0机构: Charles Nicolle Hosp, Dept Congenital & Hereditary Dis, Tunis, Tunisia Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Tunis El Manar, Fac Med Tunis, Lab Human Genet, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaTops, Carli M. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Mil Hosp Tunis, Dept Neurosurg, Tunis, Tunisia论文数: 引用数: h-index:机构:Meddeb, Rym论文数: 0 引用数: 0 h-index: 0机构: Charles Nicolle Hosp, Dept Congenital & Hereditary Dis, Tunis, Tunisia Univ Tunis El Manar, Fac Med Tunis, Lab Human Genet, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaAchoura, Sameh论文数: 0 引用数: 0 h-index: 0机构: Mil Hosp Tunis, Dept Neurosurg, Tunis, Tunisia Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaBen Rekaya, Mariem论文数: 0 引用数: 0 h-index: 0机构: Univ Tunis El Manar, Fac Med Tunis, Res Unit Oncotheranost Biomarkers, UR17ES15, Tunis, Tunisia Charles Nicolle Hosp, Dept Pathol, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaHamdeni, Emna论文数: 0 引用数: 0 h-index: 0机构: Univ Tunis El Manar, Fac Med Tunis, Res Unit Oncotheranost Biomarkers, UR17ES15, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaRammeh, Soumaya论文数: 0 引用数: 0 h-index: 0机构: Univ Tunis El Manar, Fac Med Tunis, Res Unit Oncotheranost Biomarkers, UR17ES15, Tunis, Tunisia Charles Nicolle Hosp, Dept Pathol, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaChkili, Ridha论文数: 0 引用数: 0 h-index: 0机构: Mil Hosp Tunis, Dept Neurosurg, Tunis, Tunisia Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaMansouri, Nada论文数: 0 引用数: 0 h-index: 0机构: Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia Mil Hosp Tunis, Dept Pathol, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaBelguith, Neila论文数: 0 引用数: 0 h-index: 0机构: Charles Nicolle Hosp, Dept Congenital & Hereditary Dis, Tunis, Tunisia Univ Sfax, Fac Med Sfax, Lab Human Mol Genet, Sfax, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, TunisiaMrad, Ridha论文数: 0 引用数: 0 h-index: 0机构: Charles Nicolle Hosp, Dept Congenital & Hereditary Dis, Tunis, Tunisia Univ Tunis El Manar, Fac Med Tunis, Lab Human Genet, Tunis, Tunisia Mil Hosp Tunis, Dept Neurosurg, Tunis, Tunisia
- [30] A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical reportEgyptian Journal of Medical Human Genetics, 23R. González-Tarancón论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryE. Salvador-Rupérez论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryN. Goñi-Ros论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryS. Izquierdo Álvarez论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryI. Sánchez-Navarro论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryM. Martínez García论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryJ. L. Peña Segura论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical BiochemistryA. López Lafuente论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitario Miguel Servet,Department of Clinical Biochemistry