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- [22] Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum[J]. CLINICAL GENETICS, 2018, 93 (05) : 1075 - 1080Michel, M. E.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAKonczyk, D. J.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Plast & Oral Surg, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAYeung, K. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Li Ka Shing Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAMurillo, R.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAVivero, M. P.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Plast & Oral Surg, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAHall, A. M.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Anesthesia, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAZurakowski, D.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Anesthesia, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAAdams, D.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Hematol Oncol, Dept Med, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAGupta, A.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Dept Pathol & Lab Med, Cincinnati, OH 45229 USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAHuang, A. Y.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAChung, B. H. Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Li Ka Shing Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USAWarman, M. L.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USA Boston Childrens Hosp, Dept Orthopaed Surg, Orthopaed Res Labs, Boston, MA USA
- [23] Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (03)de Kock, Leanne论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaCuillerier, Alexanne论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaGillespie, Meredith论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaCouse, Madeline论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children SickKids, Ctr Computat Med, Res Inst, Toronto, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaHartley, Taila论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaMears, Wendy论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBernier, Francois P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaChudley, Albert E.论文数: 0 引用数: 0 h-index: 0机构: Univ Manitoba, Max Rady Coll Med, Rady Fac Hlth Sci, Dept Pediat & Child Hlth, Winnipeg, MB, Canada Univ Manitoba, Max Rady Coll Med, Rady Fac Hlth Sci, Dept Biochem & Med Genet, Winnipeg, MB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaFrosk, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Manitoba, Max Rady Coll Med, Rady Fac Hlth Sci, Dept Pediat & Child Hlth, Winnipeg, MB, Canada Univ Manitoba, Max Rady Coll Med, Rady Fac Hlth Sci, Dept Biochem & Med Genet, Winnipeg, MB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaNikkel, Sarah M.论文数: 0 引用数: 0 h-index: 0机构: BC Womens Hosp, Prov Med Genet Program, Vancouver, BC, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaLauzon, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaThomas, Maryann论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaGuerin, Andrea论文数: 0 引用数: 0 h-index: 0机构: Queens Univ, Dept Pediat, Div Med Genet, Kingston, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaArmour, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada论文数: 引用数: h-index:机构:Scott, James N.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Diagnost Imaging, Calgary, AB, Canada Univ Calgary, Dept Clin Neurosci, Calgary, AB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaWatkins, Debra论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci North, Northeastern Ontario Med Genet Program, Greater Sudbury, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaHarvey, Shirley论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Ctr, Program Genet & Metab, Winnipeg, MB, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaCytrynbaum, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Res Inst, Dept Genet Counselling, Div Clin & Metab Genet, Toronto, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaKernohan, Kristin D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON, Canada Newborn Screening Ontario, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBoycott, Kym M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
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JOURNAL OF MEDICAL GENETICS, 2023, 60 (02) : 163 - 173Mussa, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, Italy Hosp Citta Salute & Sci Torino, Regina Margherita Childrens Hosp, Pediat Clin Genet, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyLeoni, Chiara论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Ctr Rare Dis & Birth Defects, Dept Woman & Child Hlth & Publ Hlth, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyIacoviello, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyCarli, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, Italy Citta Salute & Sci Torino, Regina Margherita Childrens Hosp, Stem Cell Transplantat & Cell Therapy Div, Pediat Oncohematol, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyRanieri, Carlotta论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyPantaleo, Antonino论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyBuonuomo, Paola Sabrina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Rare Dis & Med Genet Unit, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyBagnulo, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyFerrero, Giovanni Battista论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Clin & Biol Sci, Turin, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyBartuli, Andrea论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Rare Dis & Med Genet Unit, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyMelis, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Salerno, Dept Med Surg & Dent, Scuola Med Salernitana, Fisciano, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyMaitz, Silvia论文数: 0 引用数: 0 h-index: 0机构: MBBM Fdn, San Gerardo Hosp, Clin Pediat Genet Unit, Monza, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyLoconte, Daria Carmela论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyTurchiano, Antonella论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyPiglionica, Marilidia论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyDe Luisi, Annunziata论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, Italy论文数: 引用数: h-index:机构:Bukvic, Nenad论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyForleo, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Emergency & Organ Transplantat, Cardiol Unit, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana, Pediat Dept, Monza, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyZampino, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Ctr Rare Dis & Birth Defects, Dept Woman & Child Hlth & Publ Hlth, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyOnesimo, Roberta论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Ctr Rare Dis & Birth Defects, Dept Woman & Child Hlth & Publ Hlth, Rome, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyCappuccio, Gerarda论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Hosp, Dept Translat Med, Naples, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyGaravelli, Livia论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Med Genet Unit, Mother & Child Hlth Dept, Reggio Emilia, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyNovelli, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Clin Sci & Community Hlth, Milan, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyMemo, Luigi论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp Vicenza, Dept Pediat, Neonatal Intens Care Unit, Vicenza, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyMorando, Carla论文数: 0 引用数: 0 h-index: 0机构: San Bortolo Hosp Vicenza, Dept Pediat, Neonatal Intens Care Unit, Vicenza, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyDella Monica, Matteo论文数: 0 引用数: 0 h-index: 0机构: Cardarelli Hosp, Med Genet Unit, Naples, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyAccadia, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Cardinale G Panico, Med Genet Unit, Tricase, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyCapurso, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyPiscopo, Carmelo论文数: 0 引用数: 0 h-index: 0机构: Cardarelli Hosp, Med Genet Unit, Naples, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyCereda, Anna论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Pediat Dept, Bergamo, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyDi Giacomo, Marilena Carmela论文数: 0 引用数: 0 h-index: 0机构: AOR Osped San Carlo, Unit Pathol & Med Genet, Potenza, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalySaletti, Veronica论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalySpinelli, Alessandro Mauro论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Reg Coordinating Ctr Rare Dis, Udine, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyLastella, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Osped Consorziale Policlin Bari, Internal Med Unit C Frugoni, Ctr Sovraziendale Assistenza & Ric Malattie Rare, Bari, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyTenconi, Romano论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Pediat, Clin Genet, Padua, Italy Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyDvorakova, Veronika论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp Crumlin, Dermatol Clin, Dublin, Ireland Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, ItalyIrvine, Alan D.论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp Crumlin, Dermatol Clin, Dublin, Ireland Univ Torino, Dept Publ Hlth & Pediat Sci, Turin, Italy论文数: 引用数: h-index:机构:
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