共 50 条
- [21] Unveiling the potential: evaluating prenatal genetic diagnosis through exome trio sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1599 - 1600Asensio-Landa, Victor论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainSanchez, Sara论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainMartorell, Rosa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Servicio Ginecol & Obstetricia, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainSuner, Damian Heine论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainTorres-Juan, Laura论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainSantos-Simarro, Fernando论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainPaso, Maria Garcia-De论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainAvella-Klaassen, Susana Renee论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainPrado-Farnos, Maria Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainVila, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Servicio Ginecol & Obstetricia, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainAlegre, Andrea论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Servicio Ginecol & Obstetricia, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spainde Gopegui, Rosa Ruiz论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Servicio Ginecol & Obstetricia, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainTubau, Albert论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Llatzer, Servicio Ginecol & Obstetricia, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, SpainMartinez, Iciar论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain Hosp Univ Son Espases, Unidad Diagnostico Mole & Genet Clin, Palma De Mallorca, Spain
- [22] WHOLE EXOME TRIO SEQUENCING IDENTIFIES NOVEL VARIANTS FOR AUTISM SPECTRUM DISORDEREUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019, 29 : S829 - S830Harripaul, Ricardo论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaVasli, Nasim论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaRodrigues, Ashlyn论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaRabia, Ansa论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Serv, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaMahmood, Saqib论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Serv, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaHeidari, Abolfazl论文数: 0 引用数: 0 h-index: 0机构: Qazvin Univ, Qazvin, Iran Ctr Addict & Mental Hlth, Toronto, ON, CanadaAl Ayadhi, Laila论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Riyadh, Saudi Arabia Ctr Addict & Mental Hlth, Toronto, ON, CanadaBozorgmehr, Bita论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaSasanfar, Roksana论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts Mem Hosp, Worcester, MA USA Ctr Addict & Mental Hlth, Toronto, ON, CanadaAyub, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Queens Univ, Kingston, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, CanadaVincent, John论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Toronto, ON, Canada Ctr Addict & Mental Hlth, Toronto, ON, Canada
- [23] Trio-based whole exome sequencing in patients with ectopic posterior pituitaryFRONTIERS IN PEDIATRICS, 2024, 12Lyra, Arthur论文数: 0 引用数: 0 h-index: 0机构: Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, BrazilRodart, Itatiana Ferreira论文数: 0 引用数: 0 h-index: 0机构: Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, BrazilBarros, Lara论文数: 0 引用数: 0 h-index: 0机构: Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, BrazilSilva, Tatiane Sousa e论文数: 0 引用数: 0 h-index: 0机构: Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazilda Rocha, Antonio Jose论文数: 0 引用数: 0 h-index: 0机构: Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Dept Radiol, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, BrazilKochi, Cristiane论文数: 0 引用数: 0 h-index: 0机构: Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, BrazilLongui, Carlos Alberto论文数: 0 引用数: 0 h-index: 0机构: Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil Santa Casa Sao Paulo Sch Med Sci, Sao Paulo, Brazil Irmandade Santa Casa Misericordia Sao Paulo, Pediat Dept, Pediat Endocrinol Unit, Sao Paulo, Brazil
- [24] Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome SequencingBIOMED RESEARCH INTERNATIONAL, 2019, 2019Yang, Kai论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Peking Univ, Dept Obstet & Gynecol, Int Hosp, Beijing 102206, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaShen, Ming论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaYan, Yousheng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Obstet & Gynecol, Int Hosp, Beijing 102206, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaTan, Ya论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Obstet & Gynecol, Int Hosp, Beijing 102206, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaZhang, Jing论文数: 0 引用数: 0 h-index: 0机构: Shijiazhuang Obstet & Gynecol Hosp, Prenatal Diag Ctr, Shijiazhuang 050011, Hebei, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaWu, Jue论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaYang, Guangming论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaLi, Shang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Peoples Hosp, Dept Anesthesiol & Operating Room, Beijing 100044, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaWang, Jing论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Obstet & Gynecol, Int Hosp, Beijing 102206, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaRen, Zhuo论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Obstet & Gynecol, Int Hosp, Beijing 102206, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaDong, Zhe论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Obstet & Gynecol, Int Hosp, Beijing 102206, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaWang, Shan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaZhang, Manli论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R ChinaTian, Yaping论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Lab Translat Med, Beijing Key Lab Chron Heart Failure Precis Med, Beijing 100853, Peoples R China
- [25] High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesBRAIN, 2022, 145 (04) : 1507 - 1518Kurul, Semra Hiz论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyOktay, Yavuz论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Med Biol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyTopf, Ana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Translat & Clin Res, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeySzabo, Nora Zs论文数: 0 引用数: 0 h-index: 0机构: New St Johns Hosp, Epilepsy Neurol Polyclin, Buda Childrens Hosp, H-1023 Budapest, Hungary Northern Buda United Hosp, H-1023 Budapest, Hungary Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyGungor, Serdal论文数: 0 引用数: 0 h-index: 0机构: Inonu Univ, Fac Med, Turgut Ozal Res Ctr, Dept Paediat Neurol, TR-44210 Malatya, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyYaramis, Ahmet论文数: 0 引用数: 0 h-index: 0机构: Pediat Neurol Clin, TR-21070 Diyarbakir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeySonmezler, Ece论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyMatalonga, Leslie论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona 08003, Spain Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyYis, Uluc论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, Turkey论文数: 引用数: h-index:机构:Paramonov, Ida论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona 08003, Spain Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyKalafatcilar, Ipek Polat论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyGao, Fei论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 0XY, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge Biomed Campus, Cambridge CB2 0XY, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyRieger, Aliz论文数: 0 引用数: 0 h-index: 0机构: Rehabil Ctr Phys Handicapped, H-1528 Budapest, Hungary Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyArslan, Nur论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Paediat Nutr & Metab, TR-1528 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyYilmaz, Elmasnur论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyEkinci, Burcu论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyEdem, Pinar Pulat论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyAslan, Mahmut论文数: 0 引用数: 0 h-index: 0机构: Inonu Univ, Fac Med, Turgut Ozal Res Ctr, Dept Paediat Neurol, TR-44210 Malatya, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyOzgor, Bilge论文数: 0 引用数: 0 h-index: 0机构: Inonu Univ, Fac Med, Turgut Ozal Res Ctr, Dept Paediat Neurol, TR-44210 Malatya, Turkey Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyLochmuller, Angela论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, GKT Sch Med Educ, London SE1 1UL, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyNair, Ashwati论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, GKT Sch Med Educ, London SE1 1UL, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyO'Heir, Emily论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, SE1 1UL, Cambridge, MA 02142 USA Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyLovgren, Alysia K.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, SE1 1UL, Cambridge, MA 02142 USA Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Natl Hosp Neurol & Neurosurg, Neurogenet Lab, London WC1N 3BG, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Natl Hosp Neurol & Neurosurg, Neurogenet Lab, London WC1N 3BG, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyPolavarapu, Kiran论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario Res Inst, 401 Smyth Rd,Res Bldg 2, Ottawa, ON K1H 8L1, Canada Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, Turkey论文数: 引用数: h-index:机构:Muller, Juliane S.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 0XY, England Univ Cambridge, John Van Geest Ctr Brain Repair, Sch Clin Med, Dept Clin Neurosci, Cambridge CB2 0PY, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyHathazi, Denisa论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 0XY, England Univ Cambridge, John Van Geest Ctr Brain Repair, Sch Clin Med, Dept Clin Neurosci, Cambridge CB2 0PY, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyChinnery, Patrick F.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 0XY, England Univ Cambridge, MRC, Mitochondrial Biol Unit, Cambridge Biomed Campus, Cambridge CB2 0XY, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyLaurie, Steven论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona 08003, Spain Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyBeltran, Sergi论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona 08003, Spain Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona 08003, Spain Univ Ottawa, Childrens Hosp Eastern Ontario Res Inst, 401 Smyth Rd,Res Bldg 2, Ottawa, ON K1H 8L1, Canada Univ Freiburg, Fac Med, Dept Neuropediat & Muscle Disorders, Med Ctr, D-79106 Freiburg, Germany Univ Ottawa, Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, TurkeyHorvath, Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge CB2 0XY, England Univ Cambridge, John Van Geest Ctr Brain Repair, Sch Clin Med, Dept Clin Neurosci, Cambridge CB2 0PY, England Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, TR-35340 Izmir, Turkey
- [26] Trio exome sequencing with in-depth phenotyping in epilepsy: a prospective, single-centered study with return of research results toEPILEPSIA, 2021, 62 : 207 - 207Koh, Hyunyong论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USASmith, Lacey论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAPodury, Archana论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USAChourasia, Nitish论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Memphis, TN USA Boston Childrens Hosp, Boston, MA USASexton, Emma论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAKnight, Devon论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAPinsky, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAAchkar, Christelle论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USAYuskaitis, Christopher论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USAOlson, Heather论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USASheidley, Beth论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USAPoduri, Annapurna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Boston, MA USA
- [27] Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome SequencingGENES, 2024, 15 (08)Moresco, Giada论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyBedeschi, Maria Francesca论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyVenturin, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Biotechnol & Translat Med, I-20054 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyVilla, Roberta论文数: 0 引用数: 0 h-index: 0机构: ASST Santi Paolo & Carlo, Med Genet Unit, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyCostanza, Jole论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, I-20122 Milan, Italy Nerviano Med Sci, Biol Dept, Viale Pasteur 10, I-20014 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyMauri, Alessia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, I-20122 Milan, Italy Univ Milan, Pediat Clin Res Ctr Romeo & Enrica Invernizzi, Dept Biomed & Clin Sci, I-20157 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalySantaniello, Carlo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Res Labs Coordinat Unit, I-20122 Milan, Italy Ctr Diagnost Italiano, Lab Med Genet, I-20147 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyPicciolini, Odoardo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Pediat Phys Med & Rehabil Unit, I-20122 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyMessina, Laura论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Pediat Phys Med & Rehabil Unit, I-20122 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyTriulzi, Fabio论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neuroradiol Unit, I-20122 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyMiozzo, Monica Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, Italy ASST Santi Paolo & Carlo, Med Genet Unit, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyRondinone, Ornella论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, ItalyFontana, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, Italy ASST Santi Paolo & Carlo, Med Genet Unit, I-20142 Milan, Italy Univ Milan, Dept Hlth Sci, Med Genet, I-20142 Milan, Italy
- [28] A gene-agnostic trio exome sequencing strategy outperforms gene panel analysisEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 507 - 508Baptista, J.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Univ Exeter, Med Sch, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandStals, K.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England论文数: 引用数: h-index:机构:Fryer, V.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandWakeling, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandParrish, A.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandMallin, L.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandBussell, A.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandSettle, J.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandGunning, A. C.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandCaswell, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandTysoe, C.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandBaple, E.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Univ Exeter, Med Sch, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, EnglandEllard, S.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England Univ Exeter, Med Sch, Exeter, Devon, England Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England
- [29] Trio Exome Sequencing Implicates Wnt Signaling in the Pathogenesis of BladderExstrophy-Epispadias ComplexJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):Bolsius, Leah论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USARalston, Katelyn N.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAHiltebeitel, Lily论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USABorer, Joseph G.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USALee, Richard S.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAHildebrandt, Friedhelm论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USALee, Ted论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USAMann, Nina论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Boston Childrens Hosp, Boston, MA USA
- [30] Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal systemMOLECULAR GENETICS AND GENOMICS, 2022, 297 (04) : 1017 - 1026Yang, Yang论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R China Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R ChinaWang, Min论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R China Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R ChinaWang, Hao论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Dept Cell Biol & Med Genet, Hangzhou, Zhejiang, Peoples R China Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R China