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- [41] Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)GENETICS IN MEDICINE, 2019, 21 (03) : 764 - 765Koczkowska, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACallens, Tom论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGomes, Alicia论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USASharp, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAChen, Yunjia论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAHicks, Alesha D.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAAylsworth, Arthur S.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Pediat, Chapel Hill, NC 27515 USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAAzizi, Amedeo A.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Div Neonatol Pediat Intens Care & Neuropediat, Vienna, Austria Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABasel, Donald G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABellus, Gary论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Childrens Hosp, Dept Clin Genet & Metab, Aurora, CO USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABird, Lynne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA Rady Childrens Hosp, Div Genet Dysmorphol, San Diego, CA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABlazo, Maria A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Hosp, Temple, TX USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USABurke, Leah W.论文数: 0 引用数: 0 h-index: 0机构: Univ Vermont, Med Ctr, Clin Genet Program, Burlington, VT USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACannon, Ashley论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USACollins, Felicity论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW, Australia Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADeFilippo, Colette论文数: 0 引用数: 0 h-index: 0机构: UC Davis MIND Inst, Dept Pediat, Div Genom Med, Sacramento, CA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADenayer, Ellen论文数: 0 引用数: 0 h-index: 0机构: KU Leuven Univ Leuven, Dept Human Genet, Leuven, Belgium Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADigilio, Maria C.论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens, Med Genet Unit, Rome, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADills, Shelley K.论文数: 0 引用数: 0 h-index: 0机构: Carolinas Med Ctr, Charlotte, NC 28203 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USADosa, Laura论文数: 0 引用数: 0 h-index: 0机构: AOU Meyer, SOC Genet Med, Florence, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGreenwood, Robert S.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Neurol, Div Child Neurol, Chapel Hill, NC 27515 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGriffis, Cristin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAGupta, Punita论文数: 0 引用数: 0 h-index: 0机构: St Josephs Childrens Hosp, Neurofibromatosis Diagnost & Treatment Program, Paterson, NJ USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAHachen, Rachel K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Neurofibromatosis Program, Philadelphia, PA 19104 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAHernandez-Chico, Concepcion论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon & Cajal, Inst Hlth Res IRYCIS, Dept Genet, Madrid, Spain Ctr Biomed Res Network Rare Dis CIBERER, Valencia, Spain Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAJanssens, Sandra论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAJones, Kristi J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW, Australia Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAJordan, Justin T.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAKannu, Peter论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAKorf, Bruce R.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USALewis, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAListernick, Robert H.论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USALonardo, Fortunato论文数: 0 引用数: 0 h-index: 0机构: G Rummo Hosp, Med Genet Unit, Benevento, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMahoney, Maurice J.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dept Genet, New Haven, CT USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAOjeda, Mayra Martinez论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMcDonald, Marie T.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMcDougall, Carey论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMendelsohn, Nancy论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Minnesota, Genom Med Program, Minneapolis, MN USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMiller, David T.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAMori, Mari论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Dept Pediat, Warren Alpert Med Sch, Providence, RI 02912 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAOostenbrink, Rianne论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Sophia, Dept Gen Pediat, Rotterdam, Netherlands Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPerreault, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mother & Child Univ Hosp Ctr, Montreal, PQ, Canada Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPierpont, Mary Ella论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat & Ophthalmol, Minneapolis, MN USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPiscopo, Carmelo论文数: 0 引用数: 0 h-index: 0机构: AORN A Cardarelli, UOSC Med Genet, Naples, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USAPond, Dinel A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Minnesota, Genom Med Program, Minneapolis, MN USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USARandolph, Linda M.论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Calif, Childrens Hosp Los Angeles, Keck Sch Med, Div Med Genet, Los Angeles, CA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USARauen, Katherine A.论文数: 0 引用数: 0 h-index: 0机构: UC Davis MIND Inst, Dept Pediat, Div Genom Med, Sacramento, CA USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USARednam, Surya论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Hematol Oncol, Houston, TX 77030 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USARutledge, S. Lane论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USASaletti, Veronica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn, Carlo Besta Neurol Inst, Dev Neurol Unit, Milan, Italy Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA
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