共 50 条
- [41] JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille SyndromePLOS ONE, 2015, 10 (06):Li, Liting论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaDong, Jibin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Sch Pharm, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaWang, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaGuo, Hongmei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Nanjing Childrens Hosp, Dept Gastroenterol, Nanjing, Jiangsu, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaWang, Huijun论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Translat Med Res Ctr Children Dev & Dis, Shanghai Key Lab Birth Defect, Mol Genet Diag Ctr,Pediat Res Inst,Childrens Hosp, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaZhao, Jing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaQiu, Yiling论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaAbuduxikuer, Kuerbanjiang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R ChinaWang, Jianshe论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China Fudan Univ, Jinshan Hosp, Dept Pediat, Shanghai 200433, Peoples R China Fudan Univ, Childrens Hosp, Ctr Pediat Liver Dis, Shanghai 200433, Peoples R China
- [42] Clinical features of eosinophilia myalgia syndrome and related disordersRECENT ADVANCES IN TRYPTOPHAN RESEARCH: TRYPTOPHAN AND SEROTONIN PATHWAYS, 1996, 398 : 331 - 338Clauw, DJ论文数: 0 引用数: 0 h-index: 0
- [43] Prader-Willi Syndrome: A Spectrum of Anatomical and Clinical FeaturesCLINICAL ANATOMY, 2016, 29 (05) : 590 - 605Hurren, Bradley J.论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Anat, Dunedin 9016, New Zealand Univ Otago, Dept Anat, Dunedin 9016, New ZealandFlack, Natasha A. M. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Otago, Dept Anat, Dunedin 9016, New Zealand Univ Otago, Dept Anat, Dunedin 9016, New Zealand
- [44] Night eating syndrome in patients with bipolar disorder type 1 and related clinical featuresEUROPEAN PSYCHIATRY, 2020, 63 : S96 - S97Ulukaya, S.论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Res & Training Hosp Psychiat Neurol & Ne, Psychiat, Istanbul, Turkey Bakirkoy Res & Training Hosp Psychiat Neurol & Ne, Psychiat, Istanbul, TurkeyOnur, O. Sahmelikoglu论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Res & Training Hosp Psychiat Neurol & Ne, Psychiat, Istanbul, Turkey Bakirkoy Res & Training Hosp Psychiat Neurol & Ne, Psychiat, Istanbul, Turkey
- [45] Kindler Syndrome: Extension of FERMT1 Mutational Spectrum and Natural HistoryHUMAN MUTATION, 2011, 32 (11) : 1204 - 1212Has, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, Germany Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyCastiglia, Daniele论文数: 0 引用数: 0 h-index: 0机构: Ist Dermopat Immacolata IRCCS, Lab Mol & Cell Biol, Rome, Italy Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, Germanydel Rio, Marcela论文数: 0 引用数: 0 h-index: 0机构: CIEMAT CIBER Rare Dis, Regenerat Med Unit U714, Madrid, Spain Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyGarcia Diez, Marta论文数: 0 引用数: 0 h-index: 0机构: CIEMAT CIBER Rare Dis, Regenerat Med Unit U714, Madrid, Spain Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyPiccinni, Eugenia论文数: 0 引用数: 0 h-index: 0机构: Ist Dermopat Immacolata IRCCS, Lab Mol & Cell Biol, Rome, Italy Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyKiritsi, Dimitra论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, Germany Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyKohlhase, Juergen论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet Freiburg, Freiburg, Germany Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyItin, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Dept Dermatol, CH-4031 Basel, Switzerland Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyMartin, Ludovic论文数: 0 引用数: 0 h-index: 0机构: Angers Univ Hosp, Dept Dermatol, Angers, France Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyFischer, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Inst Human Genet, Freiburg, Germany Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyZambruno, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Ist Dermopat Immacolata IRCCS, Lab Mol & Cell Biol, Rome, Italy Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, GermanyBruckner-Tuderman, Leena论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, Germany Univ Freiburg, Freiburg Inst Adv Studies, Freiburg, Germany Univ Med Ctr Freiburg, Dept Dermatol, D-79104 Freiburg, Germany
- [46] KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumBRAIN, 2021, 144 : 3635 - 3650Bonardi, Claudia M.论文数: 0 引用数: 0 h-index: 0机构: ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark Univ Hosp Padua, Dept Womans & Childs Hlth, I-35100 Padua, Italy ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkHeyne, Henrike O.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Finnish Inst Mol Med FIMM, Helsinki 00290, Finland Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkFiannacca, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Radiol Dept, I-16126 Genoa, Italy ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkFitzgerald, Mark P.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Neurol, Dept Neurol, Philadelphia, PA USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Div Neurol, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:Gunning, Boudewijn论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland, NL-8025 BV Zwolle, Netherlands ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkOlofsson, Kern论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Pediat Neurol, DK-4293 Dianalund, Denmark ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Dept Genet, F-69002 Bron, France Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, CNRS UMR 5310 INSERM U1217, F-69008 Lyon, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkVerbeek, Nienke论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Dept Genet, NL-3584 CX Utrecht, Netherlands ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkStamberger, Hannah论文数: 0 引用数: 0 h-index: 0机构: VIB Ctr Mol Neurol, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Hosp, Dept Neurol, B-2650 Antwerp, Belgium ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, IRCCS G Gaslini Inst, I-16147 Genoa, Italy ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, IRCCS G Gaslini Inst, I-16147 Genoa, Italy ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkMancardi, Maria M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Child Neuropsychiat Unit, I-16147 Genoa, Italy ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkNava, Caroline论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkSyrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Div Pediat Epileptol, D-69120 Heidelberg, Germany ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBuono, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Hosp Natl Relevance AORN, Neurol Div, I-80122 Naples, Italy ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBaulac, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Inst Cerveau, CNRS, INSERM,Paris Brain Inst ICM, F-75013 Paris, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:Weckhuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: VIB Ctr Mol Neurol, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Hosp, Dept Neurol, B-2650 Antwerp, Belgium ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Sarret, Catherine论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serv Neuropediatrie, F-6310 Clermont Ferrand, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBaumgartner, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Epileptol, D-53105 Bonn, Germany ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkMuhle, Hiltrud论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Schleswig Holstein, Dept Neuropediat, D-24105 Kiel, Germany ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmarkdes Portes, Vincent论文数: 0 引用数: 0 h-index: 0机构: Femme Mere Enfant Hosp, Neuropaediat Dept, F-69500 Lyon, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkToulouse, Joseph论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Epileptol Sleep Disorders & Funct Pediat Neurol, F-69500 Bron, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkNougues, Marie-Christine论文数: 0 引用数: 0 h-index: 0机构: Hosp Armand Trousseau, AP HP, Neuropaediat Dept, F-75012 Paris, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkRossi, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Dept Genet, F-69002 Bron, France Claude Bernard Lyon 1 Univ, Lyon Neurosci Res Ctr CRNL, GENDEV Team, CNRS UMR5292,INSERM U1028, F-69675 Bron, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkDemarquay, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Neurol Hosp, Serv Neurol Fonct & Epileptol, F-69677 Bron, France Lyon Neurosci Res Ctr CRNL, NeuroPain, CNRS UMR5292, INSERM U1028, F-69677 Bron, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkVille, Dorothee论文数: 0 引用数: 0 h-index: 0机构: Lyon Univ Hosp, Pediat Neurol Dept, F-69500 Bron, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkHirsch, Edouard论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Hautepierre Hosp, Epilepsy Unit, F-67100 Strasbourg, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkMaurey, Helene论文数: 0 引用数: 0 h-index: 0机构: Hop Bicetre, Dept Pediat Neurol, F-94270 Paris, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkWillems, Marjolaine论文数: 0 引用数: 0 h-index: 0机构: Arnaud de Villeneuve Hosp, Dept Clin Genet, F-34090 Montpellier, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmarkde Bellescize, Julitta论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Dept Pediat Clin Epileptol Sleep Disorders & Func, F-69677 Lyon, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkAltuzarra, Cecilia Desmettre论文数: 0 引用数: 0 h-index: 0机构: St Jacques Hosp, Dept Pediat, F-25000 Besancon, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkVilleneuve, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Timone Children Hosp, Pediat Neurol Dept, F-13005 Marseille, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBartolomei, Fabrice论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Hosp, Publ Assistance Hosp Marseille, Epileptol Dept, F-13005 Marseille, France ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkPicard, Fabienne论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Clin Neurosci, CH-1211 Geneva, Switzerland Fac Med, CH-1211 Geneva, Switzerland ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkHornemann, Frauke论文数: 0 引用数: 0 h-index: 0机构: Hosp Children & Adolescents, Ctr Pediat Res, D-04103 Leipzig, Germany ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkKoolen, David A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Med Ctr Radboudumc, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkKroes, Hester Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Dept Genet, NL-3584 CX Utrecht, Netherlands ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark论文数: 引用数: h-index:机构:Fenger, Christina D.论文数: 0 引用数: 0 h-index: 0机构: ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkTan, Wen-Hann论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkDibbens, Leanne论文数: 0 引用数: 0 h-index: 0机构: Univ South Australia, UniSA Clin & Hlth Sci, Epilepsy Res Grp, Adelaide, SA 5001, Australia Australian Ctr Precis Hlth, Adelaide, SA 5001, Australia ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkBearden, David R.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Div Child Neurol, Sch Med, Rochester, NY 14642 USA ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark Univ Southern Denmark, Inst Reg Hlth Res, DK-5230 Odense, Denmark ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, DenmarkRubboli, Guido论文数: 0 引用数: 0 h-index: 0机构: ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark ERN EpiCARE, Dept Epilepsy Genet & Precis Med, Danish Epilepsy Ctr, DK-4293 Dianalund, Denmark
- [47] Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic CohortGENES, 2023, 14 (04)Geada, Sara论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalTeixeira-Marques, Francisco论文数: 0 引用数: 0 h-index: 0机构: Ctr Hospitalar Tamega & Sousa CHTS, Dept Otorhinolaryngol, P-4560162 Penafiel, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalTeixeira, Bruno论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalCarvalho, Ana Luisa论文数: 0 引用数: 0 h-index: 0机构: Ctr Hospitalar & Univ Coimbra, Med Genet Unit, P-3000602 Coimbra, Portugal Clin Acad Ctr Coimbra CACC, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Med Genet, Fac Med, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Pediat, Fac Med, P-3000354 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalLousan, Nuno论文数: 0 引用数: 0 h-index: 0机构: Ctr Hospitalar Tamega & Sousa CHTS, Dept Otorhinolaryngol, P-4560162 Penafiel, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalSaraiva, Jorge论文数: 0 引用数: 0 h-index: 0机构: Ctr Hospitalar & Univ Coimbra, Med Genet Unit, P-3000602 Coimbra, Portugal Clin Acad Ctr Coimbra CACC, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Med Genet, Fac Med, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Pediat, Fac Med, P-3000354 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalMurta, Joaquim论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, Portugal Clin Acad Ctr Coimbra CACC, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Ophthalmol, Fac Med, P-3000354 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalSilva, Rufino论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, Portugal Clin Acad Ctr Coimbra CACC, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Ophthalmol, Fac Med, P-3000354 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalZanlonghi, Xavier论文数: 0 引用数: 0 h-index: 0机构: Rennes Univ Hosp, Eye Dept, F-35033 Rennes, France Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalDefoort-Dhellemmes, Sabine论文数: 0 引用数: 0 h-index: 0机构: Robert Salengro Hosp, Dept Visual Explorat & Neuroophthalmol, F-59037 Lille, France Sensgene Care Network, F-67091 Strasbourg, France Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalSmirnov, Vasily论文数: 0 引用数: 0 h-index: 0机构: Robert Salengro Hosp, Dept Visual Explorat & Neuroophthalmol, F-59037 Lille, France Sensgene Care Network, F-67091 Strasbourg, France Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalDhaenens, Claire-Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, INSERM, CHU Lille, U1172 LilNCog Lille Neurosci & Cognit, F-59000 Lille, France Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalBlanchet, Catherine论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ Hosp, Reference Ctr Inherited Sensory Dis, F-34295 Montpellier, France Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalMeunier, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Sensgene Care Network, F-67091 Strasbourg, France Montpellier Univ Hosp, Reference Ctr Inherited Sensory Dis, F-34295 Montpellier, France Univ Montpellier, INSERM, Inst Neurosci Montpellier INM, F-34091 Montpellier, France Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, PortugalMarques, Joao Pedro论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, Portugal Clin Acad Ctr Coimbra CACC, P-3000354 Coimbra, Portugal Univ Coimbra FMUC, Univ Clin Ophthalmol, Fac Med, P-3000354 Coimbra, Portugal Ctr Hosp & Univ Coimbra CHUC, Ophthalmol Unit, P-3000075 Coimbra, Portugal
- [48] THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROMEGENETIC COUNSELING, 2015, 26 (02): : 249 - 251Sahin, O. N. Atan论文数: 0 引用数: 0 h-index: 0机构: Acibadem Univ, Mol Biol & Biochem PhDs, Acibadem Bodrum Hosp, Dept Pediat, TR-48420 Bodrum, Mugla, Turkey Acibadem Univ, Mol Biol & Biochem PhDs, Acibadem Bodrum Hosp, Dept Pediat, TR-48420 Bodrum, Mugla, TurkeyAtik, T.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Pediat, Pediat Genet Subdiv, TR-35100 Izmir, Turkey Acibadem Univ, Mol Biol & Biochem PhDs, Acibadem Bodrum Hosp, Dept Pediat, TR-48420 Bodrum, Mugla, TurkeyCogulu, O.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Pediat, Pediat Genet Subdiv, TR-35100 Izmir, Turkey Acibadem Univ, Mol Biol & Biochem PhDs, Acibadem Bodrum Hosp, Dept Pediat, TR-48420 Bodrum, Mugla, TurkeyOzkinay, F.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Pediat, Pediat Genet Subdiv, TR-35100 Izmir, Turkey Acibadem Univ, Mol Biol & Biochem PhDs, Acibadem Bodrum Hosp, Dept Pediat, TR-48420 Bodrum, Mugla, Turkey
- [49] The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patientsBMC MEDICAL GENETICS, 2020, 21 (01)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Ben Turkia, H.论文数: 0 引用数: 0 h-index: 0机构: La Rabta Hosp Tunis, Lab Pediat, Tunis, Tunisia Univ Monastir, Fac Pharm, Res Lab Human Genome & Multifactorial Dis, St Avicenne, Monastir 5000, TunisiaFerchichi, S.论文数: 0 引用数: 0 h-index: 0机构: Farhat HACHED Hosp Sousse, Biochem Lab, Sousse, Tunisia Univ Monastir, Fac Pharm, Res Lab Human Genome & Multifactorial Dis, St Avicenne, Monastir 5000, TunisiaTebib, N.论文数: 0 引用数: 0 h-index: 0机构: La Rabta Hosp Tunis, Lab Pediat, Tunis, Tunisia Univ Monastir, Fac Pharm, Res Lab Human Genome & Multifactorial Dis, St Avicenne, Monastir 5000, TunisiaLaradi, S.论文数: 0 引用数: 0 h-index: 0机构: French Natl Blood Syst EFS GIMAP, Auvergne Rhone Alpes Reg Branch, EA 3064, F-42100 St Etienne, France Univ Monastir, Fac Pharm, Res Lab Human Genome & Multifactorial Dis, St Avicenne, Monastir 5000, Tunisia
- [50] More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 156 - 157论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构: