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- [1] Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (12) : 1565 - 1570Baynam, Gareth论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Princess Margaret Hosp Children, Genet Serv Western Australia, Perth, WA 6009, Australia Univ Western Australia, King Edward Mem Hosp Women, Sch Paediat & Child Hlth, Perth, WA 6009, Australia Univ Western Australia, Princess Margaret Hosp Children, Genet Serv Western Australia, Perth, WA 6009, AustraliaGoldblatt, Jack论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Princess Margaret Hosp Children, Genet Serv Western Australia, Perth, WA 6009, Australia Univ Western Australia, King Edward Mem Hosp Women, Sch Paediat & Child Hlth, Perth, WA 6009, Australia Univ Western Australia, Princess Margaret Hosp Children, Genet Serv Western Australia, Perth, WA 6009, AustraliaWalpole, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Princess Margaret Hosp Children, Genet Serv Western Australia, Perth, WA 6009, Australia Univ Western Australia, King Edward Mem Hosp Women, Sch Paediat & Child Hlth, Perth, WA 6009, Australia Univ Western Australia, Princess Margaret Hosp Children, Genet Serv Western Australia, Perth, WA 6009, Australia
- [2] Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literatureEUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (01) : 55 - 59Ballarati, Lucia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, ItalyCereda, Anna论文数: 0 引用数: 0 h-index: 0机构: Fdn MBBM, AO S Gerardo, Clin Pediat Milano Bicocca, Monza, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, ItalyCaselli, Rossella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: Fdn MBBM, AO S Gerardo, Clin Pediat Milano Bicocca, Monza, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, ItalyRecalcati, Maria P.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, ItalyMaitz, Silvia论文数: 0 引用数: 0 h-index: 0机构: Fdn MBBM, AO S Gerardo, Clin Pediat Milano Bicocca, Monza, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy论文数: 引用数: h-index:机构:Larizza, Lidia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy Univ Milan, Dipartimento Med Chirurg & Odontoiatria, Milan, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, ItalyGiardino, Daniela论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy
- [3] Comprehensive neuropsychological testing in 8p23.1 Deletion Syndrome: a case studyCLINICAL NEUROPSYCHOLOGIST, 2016, 30 (03) : 453 - 453Garcia, J.论文数: 0 引用数: 0 h-index: 0Leon, K.论文数: 0 引用数: 0 h-index: 0Hernandez-Medellin, L.论文数: 0 引用数: 0 h-index: 0Tanner-Woodward, S.论文数: 0 引用数: 0 h-index: 0
- [4] Neurodevelopmental Disorder associated with 8p23.1 Microdeletion Syndrome: A Pediatric Case StudyARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2022, 37 (06) : 1413 - 1413Smith, Alphonso论文数: 0 引用数: 0 h-index: 0
- [5] An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotypeFRONTIERS IN GENETICS, 2024, 15Lucia-Campos, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainParenti, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainLatorre-Pellicer, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainGil-Salvador, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainBestetti, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, SS Med Genet Lab, SC Clin Pathol, Milan, Italy Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain论文数: 引用数: h-index:机构:Larizza, Lidia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Expt Res Lab Med Cytogenet & Mol Genet, Milan, Italy Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain论文数: 引用数: h-index:机构:Ayerza-Casas, Ariadna论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Hosp Miguel Servet, Serv Paediat, Unit Paediat Cardiol, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainDel Rincon, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainTrujillano, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Vall dHebron Hosp, Vall dHebron Res Inst VHIR, Med Genet Grp, Clin & Mol Genet Area, Barcelona, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainMorte, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainPerez-Jurado, Luis A.论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Hosp del Mar, Genet Serv, Res Inst IMIM, Barcelona, Spain Univ Pompeu Fabra, Genet Unit, Barcelona, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Univ Hosp La Paz IdiPAZ, Inst Med & Mol Genet INGEMM, Madrid, Spain Univ Hosp La Paz, ERN ITHACA, Madrid, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainLeitao, Elsa论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainBeygo, Jasmin论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainLich, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainKilpert, Fabian论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainKaya, Sabine论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainDepienne, Christel论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainKaiser, Frank J.论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Hosp Essen, Ctr Rare Dis, Essener Zentrum Seltene Erkrankungen, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainRamos, Feliciano J.论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Dept Paediat, Unit Clin Genet, Serv Paediat,Univ Hosp Lozano Blesa,Sch Med,CIBER, Zaragoza, Spain IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainPuisac, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, SpainPie, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain Univ Zaragoza, IIS Aragon, Zaragoza, Spain Univ Zaragoza, Sch Med, Dept Pharmacol & Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza, Spain
- [6] An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4MOLECULAR CYTOGENETICS, 2015, 8Selenti, Nikoletta论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, GreeceTzetis, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, GreeceBraoudaki, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, GreeceGianikou, Krinio论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, GreeceKitsiou-Tzeli, Sofia论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, GreeceFryssira, Helen论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Med Genet, GR-11527 Athens, Greece
- [7] Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 MicrodeletionJOURNAL OF PEDIATRICS, 2023, 252 : 56 - +Montenegro, Marilia Moreira论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Clin Hosp, Med Sch, Lab Med Res Pediat LIM 36, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Ave Dr Eneas Carvalho Aguiar 647, 5 Andar, LIM36, BR-05403000 Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilCamilotti, Debora论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilQuaio, Caio Robledo D'Anglioli Costa论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Israeli Hosp, Sao Paulo, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilGasparini, Yanca论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilZanardo, Evelin Aline论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilRangel-Santos, Andreia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Med Sch, Lab Med Res Pediat LIM 36, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilNovo-Filho, Gil Monteiro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilFrancisco, Gleyson论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilLiro, Lucas论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilNascimento, Amom论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilChehimi, Samar Nasser论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilSoares, Diogo Cordeiro Queiroz论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilKrepischi, Ana C. V.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilGrassi, Marcilia Sierro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilHonjo, Rachel Sayuri论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Genet Unit,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilPalmeira, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Med Sch, Lab Med Res Pediat LIM 36, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Genet Unit,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilCarneiro-Sampaio, Magda Maria Sales论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Clin Hosp, Childrens Inst, Dept Pediat,Med Sch, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilRosenberg, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, BrazilKulikowski, Leslie Domenici论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Pathol, Cytogen Lab, Sao Paulo, SP, Brazil
- [8] An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4Molecular Cytogenetics, 8Nikoletta Selenti论文数: 0 引用数: 0 h-index: 0机构: Aghia Sophia Childrens’ Hospital,Department of Medical GeneticsMaria Tzetis论文数: 0 引用数: 0 h-index: 0机构: Aghia Sophia Childrens’ Hospital,Department of Medical GeneticsMaria Braoudaki论文数: 0 引用数: 0 h-index: 0机构: Aghia Sophia Childrens’ Hospital,Department of Medical GeneticsKrinio Giannikou论文数: 0 引用数: 0 h-index: 0机构: Aghia Sophia Childrens’ Hospital,Department of Medical GeneticsSofia Kitsiou-Tzeli论文数: 0 引用数: 0 h-index: 0机构: Aghia Sophia Childrens’ Hospital,Department of Medical GeneticsHelen Fryssira论文数: 0 引用数: 0 h-index: 0机构: Aghia Sophia Childrens’ Hospital,Department of Medical Genetics
- [9] Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4Molecular Cytogenetics, 8Nikoletta Selenti论文数: 0 引用数: 0 h-index: 0机构: Athens University,Department of Medical Genetics, Aghia Sophia Childrens’ HospitalMaria Tzetis论文数: 0 引用数: 0 h-index: 0机构: Athens University,Department of Medical Genetics, Aghia Sophia Childrens’ HospitalMaria Braoudaki论文数: 0 引用数: 0 h-index: 0机构: Athens University,Department of Medical Genetics, Aghia Sophia Childrens’ HospitalKrinio Giannikou论文数: 0 引用数: 0 h-index: 0机构: Athens University,Department of Medical Genetics, Aghia Sophia Childrens’ HospitalSofia Kitsiou-Tzeli论文数: 0 引用数: 0 h-index: 0机构: Athens University,Department of Medical Genetics, Aghia Sophia Childrens’ HospitalHelen Fryssira论文数: 0 引用数: 0 h-index: 0机构: Athens University,Department of Medical Genetics, Aghia Sophia Childrens’ Hospital
- [10] Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from IndiaINTERNATIONAL JOURNAL OF HUMAN GENETICS, 2016, 16 (1-2) : 61 - 69Bajaj, Shailesh论文数: 0 引用数: 0 h-index: 0机构: Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, India Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, IndiaNampoothiri, Sheela论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci, Cochin, Kerala, India Res Ctr, Cochin, Kerala, India Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, IndiaYesodharan, Dhanya论文数: 0 引用数: 0 h-index: 0机构: Amrita Inst Med Sci, Cochin, Kerala, India Res Ctr, Cochin, Kerala, India Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, IndiaGambhir, Prakash论文数: 0 引用数: 0 h-index: 0机构: Birthright Genet Clin, Pune, Maharashtra, India Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, IndiaRanade, Suvidya论文数: 0 引用数: 0 h-index: 0机构: Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, India Savitribai Phule Pune Univ, Div Biochem, Dept Chem, Pune 411007, Maharashtra, India