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- [1] Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndromeEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2015, 172 (02) : 217 - 226Soh, Lip Min论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, England Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, England论文数: 引用数: h-index:机构:Grossman, Ashley B.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, England Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, EnglandDiffer, Ann-Marie论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, North East Thames Reg Genet Serv Lab, London WC1N 3JH, England Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, EnglandRajput, Liala论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Dept Audiovestibular Med, London WC1N 3JH, England Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, EnglandBitner-Glindzicz, Maria论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England Great Ormond St Hosp Children NHS Fdn Trust, Clin Genet Unit, London WC1N 3JH, England Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, EnglandKorbonits, Marta论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, England Queen Mary Univ London, William Harvey Res Inst, Dept Endocrinol, Barts & London Sch Med & Dent, London EC1M 6BQ, England
- [2] GENOTYPE-PHENOTYPE CORRELATION IN BRAZILLIAN RETT SYNDROME PATIENTSARQUIVOS DE NEURO-PSIQUIATRIA, 2009, 67 (3A) : 577 - 584de Lima, Fernanda T.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, BrazilBrunoni, Decio论文数: 0 引用数: 0 h-index: 0机构: Univ Presbiteriana Mackenzie, Programa Posgrad Disturbios Desenvolvimento, Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, BrazilSchwartzman, Jose Salomao论文数: 0 引用数: 0 h-index: 0机构: Univ Presbiteriana Mackenzie, Programa Posgrad Disturbios Desenvolvimento, Sao Paulo, Brazil Assoc Brasileira Sindrome Rett, Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, BrazilPozzi, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Assoc Brasileira Sindrome Rett, Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, BrazilKok, Fernando论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, BR-09500900 Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, BrazilJuliano, Yara论文数: 0 引用数: 0 h-index: 0机构: Univ Santo Amaro, Disciplina Saude Colet, Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, BrazilPereira, Lygia da Veiga论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Mol Genet Lab, Inst Biociencias, BR-09500900 Sao Paulo, Brazil Univ Fed Sao Paulo, Disciplina Genet, EPM, Ctr Genet Med,Med Genet Clin, BR-04023062 Sao Paulo, Brazil
- [3] Follow-up findings and genotype-phenotype correlation in 18 Turkish patients with biallelic mutation in the FKBP10 geneEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 238 - 238Ulker, A. Yuksel论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Med Fac, Istanbul, Turkey Istanbul Univ, Cerrahpasa Med Fac, Istanbul, TurkeyAlkaya, D. Uludag论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Med Fac, Istanbul, Turkey Istanbul Univ, Cerrahpasa Med Fac, Istanbul, TurkeyYesil, G.论文数: 0 引用数: 0 h-index: 0机构: Bezmialem Vakif Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Istanbul Univ, Cerrahpasa Med Fac, Istanbul, TurkeyToksoy, G.论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Istanbul Univ, Cerrahpasa Med Fac, Istanbul, TurkeyUyguner, Z.论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Fac Med, Dept Med Genet, Istanbul, Turkey Istanbul Univ, Cerrahpasa Med Fac, Istanbul, TurkeyTuysuz, B.论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Med Fac, Istanbul, Turkey Istanbul Univ, Cerrahpasa Med Fac, Istanbul, Turkey
- [4] Genotype-phenotype correlation in patients suspected of having Sotos syndromeHORMONE RESEARCH, 2004, 62 (04) : 197 - 207de Boer, L论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsKant, SG论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsKarperien, M论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlandsvan Beers, L论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsTjon, J论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsVink, GR论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlandsvan Tol, D论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsDauwerse, H论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlandsle Cessie, S论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsBeemer, FA论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlandsvan der Burgt, I论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsHamel, BCJ论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsHennekam, RC论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsKuhnle, U论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsMathijssen, IB论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsVeenstra-Knol, HE论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsStumpel, CTS论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsBreuning, MH论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, NetherlandsWit, JM论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, NL-2300 RC Leiden, Netherlands
- [5] Genotype-phenotype correlation analysis in Japanese patients with Noonan syndromeENDOCRINE JOURNAL, 2019, 66 (11) : 983 - 994Shoji, Yasuko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanIda, Shinobu论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan论文数: 引用数: h-index:机构:Aoki, Yoko论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Dept Med Genet, Sch Med, Sendai, Miyagi 9808574, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Genet, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanEtani, Yuri论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, JapanKawai, Masanobu论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Res Inst, Dept Bone & Mineral Res, Izumi, Osaka 5941101, Japan Osaka Womens & Childrens Hosp, Dept Gastroenterol & Endocrinol, 840 Murodo Cho, Izumi, Osaka 5941101, Japan
- [6] Paraoxonase 1 genotype-phenotype correlation in patients with metabolic syndromeROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY, 2015, 56 (02): : 387 - 392Ciumarnean, Lorena论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, RomaniaDronca, Eleonora论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Med Genet, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, RomaniaVesa, Stefan Cristian论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Pharmacol Toxicol & Clin Pharmacol, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, RomaniaSampelean, Dorel论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, RomaniaBuzoianu, Anca Dana论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Pharmacol Toxicol & Clin Pharmacol, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, RomaniaAchimas-Cadariu, Andrei论文数: 0 引用数: 0 h-index: 0机构: Iuliu Hatieganu Univ Med & Pharm, Dept Med Informat & Biostat, Cluj Napoca 400349, Romania Iuliu Hatieganu Univ Med & Pharm, Dept Internal Med 5, Cluj Napoca 400349, Romania
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