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- [42] MEK inhibitor treatment is effective in a patient with metastatic carcinoma of the ampulla of Vater with BRAF and NRAS mutations shown by next-generation sequencingANTI-CANCER DRUGS, 2016, 27 (06) : 569 - 572Tahover, Esther论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, Israel Hebrew Univ Jerusalem, Sch Med, IL-91010 Jerusalem, Israel Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, IsraelBar Shalom, Rachel论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, Israel Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, IsraelBogot, Naama论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, Israel Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, IsraelKelsen, David论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, Israel Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, IsraelGabizon, Alberto论文数: 0 引用数: 0 h-index: 0机构: Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, Israel Hebrew Univ Jerusalem, Sch Med, IL-91010 Jerusalem, Israel Shaare Zedek Med Ctr, 12 Shmuel Bait St, IL-9103102 Jerusalem, Israel
- [43] Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar AtaxiaAMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (06) : 813 - 819Vermeer, Sascha论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsMeijer, Rowdy P. P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsNeveling, Kornelia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsWieskamp, Nienke论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsde Brouwer, Arjan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKoenig, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, CNRS UMR7104, INSERM U964, IGBMC, F-67404 Illkirch Graffenstaden, France Nouvel Hop Civil, Lab Diagnost Genet, F-67091 Strasbourg, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsAnheim, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75013 Paris, France Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France INSERM, U975, F-75013 Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands论文数: 引用数: h-index:机构:Drouot, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, CNRS UMR7104, INSERM U964, IGBMC, F-67404 Illkirch Graffenstaden, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsTodorovic, Slobodanka论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Clin Pediat & Adolescent Neurol & Psychiat, Belgrade 11000, Serbia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsMilic-Rasic, Vedrana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Clin Pediat & Adolescent Neurol & Psychiat, Belgrade 11000, Serbia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France INSERM, U975, F-75013 Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France CNRS, UMR 7225, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsGoizet, Cyril论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux 2, Lab Genet Humaine, F-33076 Bordeaux, France CHU Pellegrin, Serv Genet Med, F-33076 Bordeaux, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsDavid, Albert论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44093 Nantes, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75013 Paris, France Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France INSERM, U975, F-75013 Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France CNRS, UMR 7225, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Ctr Reference Malad Neurogenet Enfant & Adulte, F-75013 Paris, France Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, F-75005 Paris, France INSERM, U975, F-75013 Paris, France Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France CNRS, UMR 7225, F-75013 Paris, France Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKremer, Berry论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, NL-9713 GZ Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsvan de Warrenburg, Bart P. C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsSchijvenaars, Mascha M. V. A. P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsHeister, Angelien论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKwint, Michael论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsArts, Peer论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsvan der Wijst, Jenny论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Physiol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsVeltman, Joris论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsScheffer, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKnoers, Nine论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
- [44] Targeted Next-Generation Sequencing of Cancer-Related Genes in a Norwegian Patient Cohort With Head and Neck Squamous Cell Carcinoma Reveals Novel Actionable Mutations and Correlations With Pathological ParametersFRONTIERS IN ONCOLOGY, 2021, 11Dongre, Harsh N.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Pathol, Bergen, Norway Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway Univ Bergen, Dept Clin Med, Ctr Canc Biomarkers CCBIO, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayHaave, Hilde论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Otolaryngol Head & Neck Surg, Bergen, Norway Univ Bergen, Fac Med, Dept Clin Med, Otolaryngol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayFromreide, Siren论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway Univ Bergen, Dept Clin Med, Ctr Canc Biomarkers CCBIO, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayErland, Fredrik A.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Otolaryngol Head & Neck Surg, Bergen, Norway Univ Bergen, Fac Med, Dept Clin Med, Otolaryngol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayMoe, Svein Erik Emblem论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Otolaryngol Head & Neck Surg, Bergen, Norway Univ Bergen, Fac Med, Dept Clin Med, Otolaryngol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayDhayalan, Sophia Manueldas论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Pathol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayRiis, Rasmus Kopperud论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Pathol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwaySapkota, Dipak论文数: 0 引用数: 0 h-index: 0机构: Univ Oslo, Fac Dent, Inst Oral Biol, Oslo, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayCostea, Daniela Elena论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Pathol, Bergen, Norway Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway Univ Bergen, Dept Clin Med, Ctr Canc Biomarkers CCBIO, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayAarstad, Hans Jorgen论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Otolaryngol Head & Neck Surg, Bergen, Norway Univ Bergen, Fac Med, Dept Clin Med, Otolaryngol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, NorwayVintermyr, Olav K.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Pathol, Bergen, Norway Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway Haukeland Hosp, Dept Pathol, Bergen, Norway
- [45] Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophyNEUROLOGY INDIA, 2018, 66 (06) : 1812 - 1814Das Bhowmik, Aneek论文数: 0 引用数: 0 h-index: 0机构: Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, India Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, IndiaTallapaka, Karthik论文数: 0 引用数: 0 h-index: 0机构: Nizams Inst Med Sci, Dept Med Genet, Hyderabad, Telangana, India Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, IndiaUppin, Megha论文数: 0 引用数: 0 h-index: 0机构: Nizams Inst Med Sci, Dept Pathol, Hyderabad, Telangana, India Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, IndiaSundaram, Challa论文数: 0 引用数: 0 h-index: 0机构: Nizams Inst Med Sci, Dept Pathol, Hyderabad, Telangana, India Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, IndiaDalal, Ashwin论文数: 0 引用数: 0 h-index: 0机构: Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, India Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Inner Ring Rd, Hyderabad 500039, Telangana, India
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