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- [21] Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanomaEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 560 - 560Repo, P. E.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Ophthalmol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandJantti, J. E.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandJarvinen, R.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Ophthalmol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandTall, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Ophthalmol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandRaivio, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Ophthalmol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandKivela, T. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Ophthalmol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, FinlandTurunen, J. A.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Dept Ophthalmol, Helsinki, Finland Helsinki Univ Hosp, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, Finland
- [22] The role of TLR7 agonists in modulating COVID-19 severity in subjects with loss-of-function TLR7 variantsSCIENTIFIC REPORTS, 2023, 13 (01)Naushad, Shaik Mohammad论文数: 0 引用数: 0 h-index: 0机构: Yoda LifeLine Diagnost Pvt Ltd, 6-3-862-A Lal Bungalow Add, Hyderabad 500016, Telangana, India Yoda LifeLine Diagnost Pvt Ltd, 6-3-862-A Lal Bungalow Add, Hyderabad 500016, Telangana, IndiaMandadapu, Gowtham论文数: 0 引用数: 0 h-index: 0机构: Devansh Lab Werks, 234 Aquarius Dr, Homewood, AL 35209 USA Yoda LifeLine Diagnost Pvt Ltd, 6-3-862-A Lal Bungalow Add, Hyderabad 500016, Telangana, IndiaRamaiah, Mekala Janaki论文数: 0 引用数: 0 h-index: 0机构: K L Univ, Vaddeswaram 522502, Andhra Pradesh, India Yoda LifeLine Diagnost Pvt Ltd, 6-3-862-A Lal Bungalow Add, Hyderabad 500016, Telangana, IndiaAlmajhdi, Fahad N.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Dept Bot & Microbiol, Coll Sci, COVID 19 Virus Res Chair, Riyadh 11451, Saudi Arabia Yoda LifeLine Diagnost Pvt Ltd, 6-3-862-A Lal Bungalow Add, Hyderabad 500016, Telangana, IndiaHussain, Tajamul论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Sci, Ctr Excellence Biotechnol Res, Riyadh 11451, Saudi Arabia Yoda LifeLine Diagnost Pvt Ltd, 6-3-862-A Lal Bungalow Add, Hyderabad 500016, Telangana, India
- [23] The role of TLR7 agonists in modulating COVID-19 severity in subjects with loss-of-function TLR7 variantsScientific Reports, 13Shaik Mohammad Naushad论文数: 0 引用数: 0 h-index: 0机构: Yoda LifeLine Diagnostics Pvt Ltd,COVIDGowtham Mandadapu论文数: 0 引用数: 0 h-index: 0机构: Yoda LifeLine Diagnostics Pvt Ltd,COVIDMekala Janaki Ramaiah论文数: 0 引用数: 0 h-index: 0机构: Yoda LifeLine Diagnostics Pvt Ltd,COVIDFahad N. Almajhdi论文数: 0 引用数: 0 h-index: 0机构: Yoda LifeLine Diagnostics Pvt Ltd,COVIDTajamul Hussain论文数: 0 引用数: 0 h-index: 0机构: Yoda LifeLine Diagnostics Pvt Ltd,COVID
- [24] Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanomaPIGMENT CELL & MELANOMA RESEARCH, 2020, 33 (05) : 756 - 762Repo, Pauliina论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, Finland Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandJantti, Johannes E.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandJarvinen, Reetta-Stiina论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, Finland Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandRantala, Elina S.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandTall, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandRaivio, Virpi论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandKivela, Tero T.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, FinlandTurunen, Joni A.论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, Finland Univ Helsinki, Helsinki Univ Hosp, Dept Ophthalmol, Ocular Oncol Serv, Helsinki, Finland Folkhalsan Res Ctr, Biomed Helsinki, Helsinki, Finland
- [25] LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic ImpactMOVEMENT DISORDERS, 2021, 36 (04) : 1029 - 1031Beetz, Christian论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyWestenberger, Ana论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, Lubeck, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyAl-Ali, Ruslan论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyAmeziane, Najim论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyAlhashmi, Nadia论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Natl Genet Ctr, Muscat, Oman CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyBoustany, Rose-Mary论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Med Ctr, Neurogenet Program, AUBMC Special Kids Clin, Beirut, Lebanon Amer Univ Beirut, Med Ctr, Div Pediat Neurol, Dept Pediat & Adolescent Med, Beirut, Lebanon Amer Univ Beirut, Med Ctr, Dept Biochem & Mol Genet, Beirut, Lebanon CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyAl Mutairi, Fuad论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Genet & Precis Med Dept, King Abdullah Specialist Children Hosp, MNGHA, Riyadh, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, MNGHA, Riyadh, Saudi Arabia CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyAlfadhel, Majid论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Genet & Precis Med Dept, King Abdullah Specialist Children Hosp, MNGHA, Riyadh, Saudi Arabia King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr KAIMRC, MNGHA, Riyadh, Saudi Arabia CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany论文数: 引用数: h-index:机构:AlSayed, Moenaldeen论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyKandaswamy, Krishna K.论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyPaknia, Omid论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanySkrahina, Volha论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany Univ Rostock, Fac Med, Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany CENTOGENE GmbH, Strande 7, D-18055 Rostock, Germany
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- [29] ACE2gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian populationEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (11) : 1602 - 1614Benetti, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Med Biotechnol, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyTita, Rossella论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy论文数: 引用数: h-index:机构:Ciolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediatr Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyBirolo, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyBruselles, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, Rome, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyDoddato, Gabriella论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyGiliberti, Annarita论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyMarconi, Caterina论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Med & Surg Sci, Bologna, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyMusacchia, Francesco论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, Pozzuoli, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyPippucci, Tommaso论文数: 0 引用数: 0 h-index: 0机构: St Orsola Malpighi Univ Hosp, Bologna, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyTorella, Annalaura论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dipartimento Med Precis, Naples, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyTrezza, Alfonso论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol Chem & Pharm, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyValentino, Floriana论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyBaldassarri, Margherita论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Med Genet, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Citta Salute & Sci, Genet Med, Turin, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyAsselta, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Humanitas Univ, Dept Biomed Sci, Milan, Italy Humanitas Clin & Res Ctr IRCCS, Milan, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyBruttini, Mirella论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Nigro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, Pozzuoli, Italy Univ Campania Luigi Vanvitelli, Dipartimento Med Precis, Naples, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy论文数: 引用数: h-index:机构:Tartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediatr Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Univ Siena, Dept Med Biotechnol, Siena, ItalyMari, Francesca论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Med Genet, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy论文数: 引用数: h-index:机构:Pinto, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Genet Med, Siena, Italy Univ Siena, Dept Med Biotechnol, Siena, Italy
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