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- [1] DUPLICATION OF THE MILLER DIEKER REGION 17p13.3: A NEW SYNDROME[J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2009, 57 (01) : 175 - 175Curry, C. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Fresno, CA USA Univ Calif San Francisco, Fresno, CA USAFisher, J. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Fresno, CA USA Univ Calif San Francisco, Fresno, CA USAGripp, K.论文数: 0 引用数: 0 h-index: 0机构: Alfred I DuPont Hosp Children, Wilmington, DE USA Univ Calif San Francisco, Fresno, CA USAHopkins, E.论文数: 0 引用数: 0 h-index: 0机构: Alfred I DuPont Hosp Children, Wilmington, DE USA Univ Calif San Francisco, Fresno, CA USATsai, A. C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Aurora, CO USA Univ Calif San Francisco, Fresno, CA USASwisshelm, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Denver, CO 80202 USA Univ Calif San Francisco, Fresno, CA USAAradhya, S.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Calif San Francisco, Fresno, CA USADobyns, W. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Chicago, IL 60637 USA Univ Calif San Francisco, Fresno, CA USA
- [2] Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes[J]. JOURNAL OF MEDICAL GENETICS, 2010, 47 (05) : 299 - 311Bruno, Damien L.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Univ Melbourne, Royal Childrens Hosp, Dept Pediat, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaAnderlid, Britt-Marie论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, Stockholm, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaLindstrand, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, Stockholm, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australiavan Ravenswaaij-Arts, Conny论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Genet, Univ Med Ctr Groningen, Groningen, Netherlands Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaGanesamoorthy, Devika论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Univ Melbourne, Royal Childrens Hosp, Dept Pediat, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaLundin, Johanna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, Stockholm, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaMartin, Christa Lese论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaDouglas, Jessica论文数: 0 引用数: 0 h-index: 0机构: Natl Birth Defects Ctr, Waltham, MA USA Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaNowak, Catherine论文数: 0 引用数: 0 h-index: 0机构: Natl Birth Defects Ctr, Waltham, MA USA Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaAdam, Margaret P.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaKooy, R. Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Antwerp, Belgium Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaVan der Aa, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Antwerp, Belgium Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaReyniers, Edwin论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, B-2020 Antwerp, Belgium Univ Antwerp Hosp, Antwerp, Belgium Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia论文数: 引用数: h-index:机构:Stolte-Dijkstra, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Genet, Univ Med Ctr Groningen, Groningen, Netherlands Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaDijkhuizen, Trijnie论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Dept Genet, Univ Med Ctr Groningen, Groningen, Netherlands Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaYeung, Alison论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaDelatycki, Martin论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaBorgstrom, Birgit论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Endocrinol, Pediat Clin, Huddinge, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaThelin, Lena论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Sachs Childrens Hosp, Stockholm, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaCardoso, Carlos论文数: 0 引用数: 0 h-index: 0机构: Univ Mediterranee, INSERM, INMED, U901, Marseille, France Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australiavan Bon, Bregje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australiade Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaWallin, Anders论文数: 0 引用数: 0 h-index: 0机构: Malar Hosp, Eskilstuna, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaAmor, David J.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaJames, Paul A.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaSlater, Howard R.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia Univ Melbourne, Royal Childrens Hosp, Dept Pediat, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, AustraliaSchoumans, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Clin Genet Unit, Stockholm, Sweden Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Murdoch, WA, Australia
- [3] The Duplication 17p13.3 Phenotype: Analysis of 21 Families Delineates Developmental, Behvioral and Families Dellineates Developmental, Behavioral and Brain Abnormalities, and Rare Variant Phenotypes[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (08) : 1833 - 1852Curry, Cynthia J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Genet Med Cent Calif, Fresno, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAGrant, Erica论文数: 0 引用数: 0 h-index: 0机构: Genet Med Cent Calif, Fresno, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: DuPont Hosp Children, Wilmington, DE USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAAnderson, Carol论文数: 0 引用数: 0 h-index: 0机构: Jefferson Med Coll, Philadelphia, PA 19107 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAAylsworth, Arthur S.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USABen Saad, Taha论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Indianapolis, IN USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAChizhikov, Victor V.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USADybose, Giedre论文数: 0 引用数: 0 h-index: 0机构: Sydvestjysk Sygehus Hosp, Dept Pediat, Esbjerg, Denmark Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAFagerberg, Christina论文数: 0 引用数: 0 h-index: 0机构: Vejle Hosp, Dept Clin Genet, Vejle, Denmark Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAFalco, Michelle论文数: 0 引用数: 0 h-index: 0机构: Oasi Inst, Troina, Italy Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAFels, Christina论文数: 0 引用数: 0 h-index: 0机构: Integrated Genet Inc, Philadelphia, PA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAFichera, Marco论文数: 0 引用数: 0 h-index: 0机构: Oasi Inst, Troina, Italy Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAGraakjaer, Jesper论文数: 0 引用数: 0 h-index: 0机构: Vejle Hosp, Dept Clin Genet, Vejle, Denmark Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAGreco, Donatella论文数: 0 引用数: 0 h-index: 0机构: Oasi Inst, Troina, Italy Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAHair, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente, Gaithersburg, MD USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAHopkins, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: DuPont Hosp Children, Wilmington, DE USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAHuggins, Marlene论文数: 0 引用数: 0 h-index: 0机构: Penn State Hershey Childrens Hosp, Hershey, PA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USALadda, Roger论文数: 0 引用数: 0 h-index: 0机构: Penn State Hershey Childrens Hosp, Hershey, PA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USALi, Chumei论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Hamilton, ON, Canada Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAMoeschler, John论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USANowaczyk, Malgorzata J. M.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Hamilton, ON, Canada Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAOzmore, Jillian R.论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAReitano, Santina论文数: 0 引用数: 0 h-index: 0机构: Oasi Inst, Troina, Italy Univ Calif San Francisco, Dept Pediat, San Francisco, CA USARomano, Corrado论文数: 0 引用数: 0 h-index: 0机构: Oasi Inst, Troina, Italy Univ Calif San Francisco, Dept Pediat, San Francisco, CA USARoos, Laura论文数: 0 引用数: 0 h-index: 0机构: Kennedy Ctr, Glostrop, Denmark Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASchnur, Rhonda E.论文数: 0 引用数: 0 h-index: 0机构: Rowan Univ, Cooper Med Sch, Div Genet, Camden, NJ USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASell, Susan论文数: 0 引用数: 0 h-index: 0机构: Penn State Hershey Childrens Hosp, Hershey, PA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASuwannarat, Pim论文数: 0 引用数: 0 h-index: 0机构: Kaiser Hosp, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASvaneby, Dea论文数: 0 引用数: 0 h-index: 0机构: Vejle Hosp, Dept Clin Genet, Vejle, Denmark Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASzybowska, Marta论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Hamilton, ON, Canada Univ Calif San Francisco, Dept Pediat, San Francisco, CA USATarnopolsky, Mark论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Neuromuscular & Neurometab Unit, Hamilton, ON, Canada Univ Calif San Francisco, Dept Pediat, San Francisco, CA USATervo, Raymond论文数: 0 引用数: 0 h-index: 0机构: Gillette Childrens Hosp, St Paul, MN USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USATsai, Anne Chun-Hui论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Portland, OR 97201 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USATucker, Megan论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Indianapolis, IN USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAVallee, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAWheeler, Ferrin C.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Nashville, TN 37235 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAZand, Dina J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Med Ctr, Washington, DC USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USABarkovich, A. James论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Radiol, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAAradhya, Swaroop论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAShaffer, Lisa G.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer Inc, Signature Genom Labs, Spokane, WA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USADobyns, William B.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Neurol, Seattle, WA 98195 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA
- [4] SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably[J]. Orphanet Journal of Rare Diseases, 17Ewelina Bukowska-Olech论文数: 0 引用数: 0 h-index: 0机构: Poznan University of Medical Sciences,Department of Medical GeneticsAnna Sowińska-Seidler论文数: 0 引用数: 0 h-index: 0机构: Poznan University of Medical Sciences,Department of Medical GeneticsJolanta Wierzba论文数: 0 引用数: 0 h-index: 0机构: Poznan University of Medical Sciences,Department of Medical GeneticsAleksander Jamsheer论文数: 0 引用数: 0 h-index: 0机构: Poznan University of Medical Sciences,Department of Medical Genetics
- [5] SHFLD3 phenotypes caused by 17p13.3 triplication/duplication encompassing Fingerin (BHLHA9) invariably[J]. ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)论文数: 引用数: h-index:机构:Sowinska-Seidler, Anna论文数: 0 引用数: 0 h-index: 0机构: Poznan Univ Med Sci, Dept Med Genet, Poznan, Poland Poznan Univ Med Sci, Dept Med Genet, Poznan, Poland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [6] Leukoencephalopathy caused by a 17p13.3 microdeletion[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2024, 95 (03): : 290 - 292Wade, Charles论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandWilliams, Thomas论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandLabrum, Robyn论文数: 0 引用数: 0 h-index: 0机构: North Thames Genom Lab Hub, Rare & Inherited Dis Lab, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandPatel, Yogen论文数: 0 引用数: 0 h-index: 0机构: North Thames Genom Lab Hub, Rare & Inherited Dis Lab, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandCali, Elisa论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandDavagnanam, Indran论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Natl Hosp Neurol & Neurosurg, Lysholm Dept Neuroradiol, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandAdams, Matthew E.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Natl Hosp Neurol & Neurosurg, Lysholm Dept Neuroradiol, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandBarkhof, Frederik论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, England Natl Hosp Neurol & Neurosurg, Natl Hosp Neurol & Neurosurg, Lysholm Dept Neuroradiol, London, England Amsterdam UMC, Dept Radiol & Nucl Med, Amsterdam, Netherlands UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandMurphy, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London Hosp NHS Fdn Trust, Charles Dent Metab Unit, Natl Hosp Neurol & Neurosurg, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandChataway, Jeremy论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, England Univ Coll London Hosp, Natl Inst Hlth Res, Biomed Res Ctr, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, EnglandLynch, David S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Dis, London, England UCL Queen Sq Inst Neurol, Mol Neurosci, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuroinflammat, London, England
- [7] DUPLICATION OF SERPINF1 ON 17p13.3 LEADS TO AN UNCLASSIFIED TYPE OF METAPHYSEAL DYSPLASIA[J]. JOURNAL OF INVESTIGATIVE MEDICINE, 2014, 62 (01) : 232 - 232Graham, J. M.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Childrens Hosp Los Angeles, Los Angeles, CA 90027 USAShih, E. M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA Childrens Hosp Los Angeles, Los Angeles, CA 90027 USAPitukcheewanont, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA Childrens Hosp Los Angeles, Los Angeles, CA 90027 USAVitazka, P.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Childrens Hosp Los Angeles, Los Angeles, CA 90027 USA
- [8] 17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant[J]. COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2018, 4 (03):Farris, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Med Ctr Akron, Akron, OH 44308 USA Childrens Hosp Med Ctr Akron, Akron, OH 44308 USAWu, Helena论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Bronx, NY 10461 USA Childrens Hosp Med Ctr Akron, Akron, OH 44308 USASaid-Delgado, Sara论文数: 0 引用数: 0 h-index: 0机构: Bronx Lebanon Hosp Ctr, Dept Obstet & Gynecol, Bronx, NY 10457 USA Childrens Hosp Med Ctr Akron, Akron, OH 44308 USASuskin, Barrie论文数: 0 引用数: 0 h-index: 0机构: Montefiore Med Ctr, Albert Einstein Coll Med, Dept Obstet & Gynecol & Womens Hlth, Div Reprod & Med Genet, Bronx, NY 10461 USA Childrens Hosp Med Ctr Akron, Akron, OH 44308 USAKlugman, Susan论文数: 0 引用数: 0 h-index: 0机构: Montefiore Med Ctr, Albert Einstein Coll Med, Dept Obstet & Gynecol & Womens Hlth, Div Reprod & Med Genet, Bronx, NY 10461 USA Childrens Hosp Med Ctr Akron, Akron, OH 44308 USA
- [9] Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (01) : 22 - 26Ostergaard, John R.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Paediat A, Ctr Rare Dis, DK-8200 Aarhus N, Denmark Aarhus Univ Hosp, Dept Paediat A, Ctr Rare Dis, DK-8200 Aarhus N, DenmarkGraakjaer, Jesper论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp, Dept Clin Genet, Vejle, Denmark Aarhus Univ Hosp, Dept Paediat A, Ctr Rare Dis, DK-8200 Aarhus N, DenmarkBrandt, Carsten论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp, Dept Clin Genet, Vejle, Denmark Aarhus Univ Hosp, Dept Paediat A, Ctr Rare Dis, DK-8200 Aarhus N, DenmarkBirkebaek, Niels H.论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Paediat A, Skejby, Denmark Aarhus Univ Hosp, Dept Paediat A, Ctr Rare Dis, DK-8200 Aarhus N, Denmark
- [10] A Four Generation Family with Duplication of 17p13.3 with Variable Split-Hand/Foot Malformation[J]. CYTOGENETIC AND GENOME RESEARCH, 2012, 136 (04) : 328 - 328DuPont, B. R.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr, Greenwood, SC 29646 USAChaubey, A. D.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr, Greenwood, SC 29646 USABartel, F. O.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr, Greenwood, SC 29646 USAHolden, K. R.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr, Greenwood, SC 29646 USAAlvarenga, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Honduras, Sch Med, Hosp Escuela Materno Infantil, Tegucigalpa, Honduras Greenwood Genet Ctr, Greenwood, SC 29646 USASimpson, D. K.论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Portland, OR USA Greenwood Genet Ctr, Greenwood, SC 29646 USAArmour, C. M.论文数: 0 引用数: 0 h-index: 0机构: Kingston Gen Hosp, Kingston, ON K7L 2V7, Canada Greenwood Genet Ctr, Greenwood, SC 29646 USASchwartz, C. E.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr, Greenwood, SC 29646 USAEverman, D. B.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Greenwood Genet Ctr, Greenwood, SC 29646 USA