共 5 条
- [1] The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes[J]. neurogenetics, 2018, 19 : 111 - 121Lorena Travaglini论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersChiara Aiello论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersFabrizia Stregapede论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersAdele D’Amico论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersViola Alesi论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersAndrea Ciolfi论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersAlessandro Bruselles论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersMichela Catteruccia论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersSimone Pizzi论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersGinevra Zanni论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersSara Loddo论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersSabina Barresi论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersGessica Vasco论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersMarco Tartaglia论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersEnrico Bertini论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative DisordersFrancesco Nicita论文数: 0 引用数: 0 h-index: 0机构: Ospedale Pediatrico Bambino Gesù,Unit of Neuromuscular and Neurodegenerative Disorders
- [2] The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes[J]. NEUROGENETICS, 2018, 19 (02) : 111 - 121Travaglini, Lorena论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyAiello, Chiara论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyStregapede, Fabrizia论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Roma Tre Univ, Dept Sci, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyD'Amico, Adele论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyAlesi, Viola论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Clin Genet Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyCiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyBruselles, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyCatteruccia, Michela论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyPizzi, Simone论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyZanni, Ginevra论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyLoddo, Sara论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Clin Genet Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyBarresi, Sabina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyVasco, Gessica论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Movement Anal & Robot Lab MARLab, Neurorehabil Unit, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, ItalyNicita, Francesco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy Osped Pediat Bambino Gesu, Unit Neuromuscular & Neurodegenerat Disorders, Vle S Paolo 15, I-00146 Rome, Italy
- [3] Pediatric cardiomyopathies: assessment of genetic causes by next generation sequencing of cardiomyopathy genes and genotype-phenotype correlation[J]. EUROPEAN HEART JOURNAL, 2018, 39 : 1282 - 1282Ader, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, FranceKhraiche, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Necker, Paris, France Hosp Pitie Salpetriere, Paris, FranceKuster, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Nantes, Nantes, France Hosp Pitie Salpetriere, Paris, FranceTroadec, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Caen, Caen, France Hosp Pitie Salpetriere, Paris, FranceRooryck-Thambo, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Haut Leveque, Bordeaux, France Hosp Pitie Salpetriere, Paris, FranceRambaud, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Raymond Poincare, Garches, France Hosp Pitie Salpetriere, Paris, FranceBendrik, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Nantes, Nantes, France Hosp Pitie Salpetriere, Paris, FranceBordet, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, FranceBonnet, D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Necker, Paris, France Hosp Pitie Salpetriere, Paris, FranceCharron, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, FranceRichard, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pitie Salpetriere, Paris, France Hosp Pitie Salpetriere, Paris, France
- [4] Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan[J]. Hereditary Cancer in Clinical Practice, 20Fizza Akbar论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthZahraa Siddiqui论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthMuhammad Talha Waheed论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthLubaina Ehsan论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthSyed Ibaad Ali论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthHajra Wiquar论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthAzmina Tajuddin Valimohammed论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthShaista Khan论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthLubna Vohra论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthSana Zeeshan论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthYasmin Rashid论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthMunira Moosajee论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthAdnan Abdul Jabbar论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthMuhammad Nauman Zahir论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthNaila Zahid论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthRufina Soomro论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthNajeeb Niamat Ullah论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthImran Ahmad论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthGhulam Haider论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthUzair Ansari论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthArjumand Rizvi论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthArif Mehboobali论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthAbida Sattar论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child HealthSalman Kirmani论文数: 0 引用数: 0 h-index: 0机构: Aga Khan University,Division of Women and Child Health
- [5] Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan[J]. HEREDITARY CANCER IN CLINICAL PRACTICE, 2022, 20 (01)Akbar, Fizza论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanSiddiqui, Zahraa论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Med Coll, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan论文数: 引用数: h-index:机构:Ehsan, Lubaina论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Med Coll, Karachi, Pakistan Western Michigan Univ Stryker, Sch Med, Kalamazoo, MI USA Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanAli, Syed Ibaad论文数: 0 引用数: 0 h-index: 0机构: Western Michigan Univ Stryker, Sch Med, Kalamazoo, MI USA Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanWiquar, Hajra论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanValimohammed, Azmina Tajuddin论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Oncol, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanKhan, Shaista论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Surg, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan论文数: 引用数: h-index:机构:Zeeshan, Sana论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Surg, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanRashid, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Oncol, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanMoosajee, Munira论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Oncol, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan论文数: 引用数: h-index:机构:Zahir, Muhammad Nauman论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Oncol, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanZahid, Naila论文数: 0 引用数: 0 h-index: 0机构: Liaquat Natl Hosp & Med Coll, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanSoomro, Rufina论文数: 0 引用数: 0 h-index: 0机构: Liaquat Natl Hosp & Med Coll, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanUllah, Najeeb Niamat论文数: 0 引用数: 0 h-index: 0机构: Shaukat Khanum Hosp, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanAhmad, Imran论文数: 0 引用数: 0 h-index: 0机构: Canc Fdn Hosp, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanHaider, Ghulam论文数: 0 引用数: 0 h-index: 0机构: Bait Ul Sukoon Canc Hosp, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanAnsari, Uzair论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Pediat & Child Hlth, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan论文数: 引用数: h-index:机构:Mehboobali, Arif论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, PakistanSattar, Abida论文数: 0 引用数: 0 h-index: 0机构: Aga Khan Univ, Dept Surg, Karachi, Pakistan Aga Khan Univ, Div Women & Child Hlth, Karachi, Pakistan论文数: 引用数: h-index:机构: