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- [21] Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndromeBRITISH JOURNAL OF OPHTHALMOLOGY, 2023, 107 (10) : 1554 - 1559Huryn, Laryssa A.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAFlaherty, Taylor论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USANolen, Rosalie论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAPrasov, Lev论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA WK Kellogg Eye Ctr, Dept Ophthalmol & Visual Sci, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAZein, Wadih M.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USACukras, Catherine A.论文数: 0 引用数: 0 h-index: 0机构: NEI, Div Epidemiol & Clin Applicat, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAOsgood, Sharon论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Translat Vasc Med Branch, Bldg 10, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USARaja, Neelam论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Translat Vasc Med Branch, Bldg 10, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USALevin, Mark D.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Translat Vasc Med Branch, Bldg 10, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAVitale, Susan论文数: 0 引用数: 0 h-index: 0机构: NEI, Div Epidemiol & Clin Applicat, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USABrooks, Brian P.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAHufnagel, Robert B.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USAKozel, Beth A.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Translat Vasc Med Branch, Bldg 10, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA
- [22] Optical coherence tomography angiography findings in Williams-Beuren syndromeGraefe's Archive for Clinical and Experimental Ophthalmology, 2024, 262 : 1131 - 1140Marco Nassisi论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthClaudia Mainetti论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthAndrea Sperti论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthGuido Galmozzi论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthAndrea Aretti论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthGaia Leone论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthValeria Nicotra论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthFederico Grilli论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthBerardo Rinaldi论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthFederica Natacci论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthMaria Francesca Bedeschi论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community HealthFrancesco Viola论文数: 0 引用数: 0 h-index: 0机构: Ophthalmology Unit,Department of Clinical Sciences and Community Health
- [23] Saccade dysmetria in Williams-Beuren syndromeNEUROPSYCHOLOGIA, 2004, 42 (05) : 569 - 576van der Geest, JN论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, NetherlandsLagers-van Haselen, GC论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, Netherlandsvan Hagen, JM论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, NetherlandsGovaerts, LCP论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, Netherlandsde Coo, IFM论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, Netherlandsde Zeeuw, CI论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, NetherlandsFrens, MA论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Neurosci, NL-3000 DR Rotterdam, Netherlands
- [24] Williams-Beuren syndrome in diverse populationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (05) : 1128 - 1136Kruszka, Paul论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAPorras, Antonio R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Sheikh Zayed Inst Pediat Surg Innovat, Washington, DC USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAde Souza, Deise Helena论文数: 0 引用数: 0 h-index: 0机构: Sao Paulo State Univ UNESP, Inst Biosci, Dept Genet, Sao Paulo, Brazil NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAMoresco, Angeica论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHuckstadt, Victoria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAGill, Ashleigh D.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USABoyle, Alec P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Sheikh Zayed Inst Pediat Surg Innovat, Washington, DC USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHu, Tommy论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAAddissie, Yonit A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAMok, Gary T. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USATekendo-Ngongang, Cedrik论文数: 0 引用数: 0 h-index: 0机构: Univ Cape Town, Div Human Genet, Cape Town, South Africa NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Prijoles, Eloise J.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USATanpaiboon, Pranoot论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Rare Dis Inst, Washington, DC 20010 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHoney, Engela论文数: 0 引用数: 0 h-index: 0机构: Univ Pretoria, Dept Genet, Pretoria, South Africa NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHo-Ming, Luk论文数: 0 引用数: 0 h-index: 0机构: Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USALo, Ivan F. M.论文数: 0 引用数: 0 h-index: 0机构: Dept Hlth, Clin Genet Serv, Hong Kong, Hong Kong, Peoples R China NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAThong, Meow-Keong论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Dept Paediat, Fac Med, Kuala Lumpur, Malaysia NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAMuthukumarasamy, Premala论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Dept Paediat, Fac Med, Kuala Lumpur, Malaysia NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAJones, Kelly L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USABelhassan, Khadija论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA Hassan II Univ Hosp, Med Genet & Oncogenet Unit, Fes, Morocco NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAOuldim, Karim论文数: 0 引用数: 0 h-index: 0机构: Hassan II Univ Hosp, Med Genet & Oncogenet Unit, Fes, Morocco NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAEl Bouchikhi, Ihssane论文数: 0 引用数: 0 h-index: 0机构: Hassan II Univ Hosp, Med Genet & Oncogenet Unit, Fes, Morocco Univ Sidi Mohammed Ben Abdellah, Fac Sci & Tech, Lab Microbial Biotechnol, Fes, Morocco NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USABouguenouch, Laila论文数: 0 引用数: 0 h-index: 0机构: Hassan II Univ Hosp, Med Genet & Oncogenet Unit, Fes, Morocco NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAShukla, Anju论文数: 0 引用数: 0 h-index: 0机构: Manipal Univ, Kasturba Med Coll, Dept Med Genet, Manipal, India NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAGirisha, Katta M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Univ, Kasturba Med Coll, Dept Med Genet, Manipal, India NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USASirisena, Nirmala D.论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Fac Med, Human Genet Unit, Colombo, Sri Lanka NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USADissanayake, Vajira H. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Fac Med, Human Genet Unit, Colombo, Sri Lanka NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAPaththinige, C. Sampath论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Fac Med, Human Genet Unit, Colombo, Sri Lanka NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAMishra, Rupesh论文数: 0 引用数: 0 h-index: 0机构: Univ Colombo, Fac Med, Human Genet Unit, Colombo, Sri Lanka NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAKisling, Monisha S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Rare Dis Inst, Washington, DC 20010 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAFerreira, Carlos R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Rare Dis Inst, Washington, DC 20010 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAde Herreros, Maria Beatriz论文数: 0 引用数: 0 h-index: 0机构: Natl Secretariat Rights People Disabil SENADIS, Fernando De La Mora, Paraguay NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USALee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat & Med Genet, Taipei, Taiwan NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAJamuar, Saumya S.论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Paediat, Genet Serv, Singapore, Singapore NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USALai, Angeline论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Paediat, Genet Serv, Singapore, Singapore NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAShien, Tan Ee论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Paediat, Genet Serv, Singapore, Singapore NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USALim, Jiin Ying论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Paediat, Genet Serv, Singapore, Singapore NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAWen-Min, Cham Breana论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Dept Paediat, Genet Serv, Singapore, Singapore NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAGupta, Neerja论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, Div Genet, New Delhi, India NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USALotz-Esquivel, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan de Dios CCSS, Dept Res, San Jose, Costa Rica NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USABadilla-Porras, Ramses论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Ninos CCSS, Med Genet & Metab Dept, San Jose, Costa Rica NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHussen, Dalia Farouk论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Human Cytogenet, Cairo, Egypt NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAEl Ruby, Mona O.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Cairo, Egypt NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAAshaat, Engy A.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Clin Genet Dept, Cairo, Egypt NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAPatil, Siddaramappa J.论文数: 0 引用数: 0 h-index: 0机构: Narayana Hlth City, Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USADowsett, Leah论文数: 0 引用数: 0 h-index: 0机构: Kapiolani Med Ctr Women & Children, Honolulu, HI USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAEaton, Alison论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAShotelersuk, Vorasuk论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Dept Pediat, Fac Med, Ctr Excellence Med Genet, Bangkok, Thailand NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
- [25] Metabolic abnormalities in Williams-Beuren syndromeJOURNAL OF MEDICAL GENETICS, 2015, 52 (04) : 248 - 255Gabriela Palacios-Verdu, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, Spain Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, SpainSegura-Puimedon, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Med Univ Lubeck, Inst Integrat & Expt Genom, D-23538 Lubeck, Germany Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, SpainBorralleras, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, Spain Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, SpainFlores, Raquel论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, Spain Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, SpainDel Campo, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Hosp Dew Vall dHebron, Area Med Mol Genet, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, SpainCampuzano, Victoria论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, Spain Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, SpainAlberto Perez-Jurado, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, Spain Hosp del Mar Res Inst IMIM, Barcelona, Spain CIBERER, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona 08003, Spain
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