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- [42] GENOTYPE-PHENOTYPE CORRELATIONS IN BYELORUSSIAN PATIENTS WITH WILSON DISEASEJOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 261 - 261Dubovik, S. V.论文数: 0 引用数: 0 h-index: 0机构: Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUS Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUSBudzeika, E. S.论文数: 0 引用数: 0 h-index: 0机构: Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUS Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUSKolkova, T.论文数: 0 引用数: 0 h-index: 0机构: Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUS Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUSEfimchik, T. M.论文数: 0 引用数: 0 h-index: 0机构: Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUS Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUSGusina, N. B.论文数: 0 引用数: 0 h-index: 0机构: Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUS Byelorussian Natl Sci Med Ctr Mother & Child, Minsk, BELARUS
- [43] Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from TurkeyBIOCHEMICAL GENETICS, 2025, 63 (01) : 896 - 905Balasar, Ozgur论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, TurkiyeYilmaz, Banu Kadioglu论文数: 0 引用数: 0 h-index: 0机构: Selcuk Univ, Fac Med, Dept Pediat Metab, Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, TurkiyeBasdemirci, Mueserref论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, TurkiyeEker, Hatice Kocak论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiyecavdartepe, Busra Eser论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, TurkiyeSimsek, Levent论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, TurkiyeTuncez, Ebru论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, TurkiyeDuymus, Fahrettin论文数: 0 引用数: 0 h-index: 0机构: Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye Konya City Hosp, Dept Med Genet, Akabe Quarter, Adane Cevreyolu St, TR-42020 Konya, Turkiye
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- [45] Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experienceJOURNAL OF MEDICAL GENETICS, 2006, 43 (07) : 568 - 575Bhuiyan, Z. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, EnglandKlein, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, EnglandHammond, P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, Englandvan Haeringen, A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, EnglandMannens, M. M. A. M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, EnglandVan Berckelaer-Onnes, I.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, EnglandHennekam, R. C. M.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
- [46] The conductance of KCNQ2 and its pathogenic variants is determined by individual subunit gatingSCIENCE ADVANCES, 2025, 11 (10):Hinojo-Perez, Andy论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USAEldstrom, Jodene论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Anesthesiol Pharmacol & Therapeut, Vancouver, BC V6T 1Z3, Canada Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USADou, Ying论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Anesthesiol Pharmacol & Therapeut, Vancouver, BC V6T 1Z3, Canada Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USAMarinho-Alcara, Allan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA Pontif Catholic Univ Rio Grande Do Sul, Brain Inst Rio Grande Do Sul, Lab Neurosci & Electrophysiol, Porto Alegre, Brazil Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USAEdmond, Michaela A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USAde la Cruz, Alicia论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Physiol & Biophys, Miami, FL 33136 USA Linkoping Univ, Dept Biomed & Clin Sci BKV, SE-58183 Linkoping, Sweden Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USARodriguez, Marta E. Perez论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Physiol & Biophys, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USADiaz-Solares, Maykelis论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USADykxhoorn, Derek M.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USAFedida, David论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Anesthesiol Pharmacol & Therapeut, Vancouver, BC V6T 1Z3, Canada Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USABarro-Soria, Rene论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dept Med, Miami, FL 33136 USA
- [47] Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2ORPHANET JOURNAL OF RARE DISEASES, 2013, 8Milh, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Fac Med, INSERM, UMR S 910, F-13005 Marseille, France CHU Timone, APHM, Serv Neurol Pediat, Marseille, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceBoutry-Kryza, Nadia论文数: 0 引用数: 0 h-index: 0机构: Hop Edouard Herriot, Genet Lab, Hosp Civils Lyon, Lyon, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceSutera-Sardo, Julie论文数: 0 引用数: 0 h-index: 0机构: Fac Med, INSERM, UMR S 910, F-13005 Marseille, France CHU Timone, APHM, Serv Neurol Pediat, Marseille, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Unite Fonct Genet Med, F-75634 Paris, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceAuvin, Stephane论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, APHP, Serv Neuropediat, F-75019 Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceLacoste, Caroline论文数: 0 引用数: 0 h-index: 0机构: CHU Timone, APHM, Dept Genet Med & Biol Cellulaire, Marseille, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceVilleneuve, Nathalie论文数: 0 引用数: 0 h-index: 0机构: CHU Timone, APHM, Serv Neurol Pediat, Marseille, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceRoubertie, Agathe论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Serv Neuropediat, Montpellier, France INM Montpellier, INSERM, U1051, Montpellier, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceHeron, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceCarneiro, Maryline论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Serv Neuropediat, Montpellier, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceKaminska, Anna论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, APHP, Serv Neurophysiol Clin, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceAltuzarra, Cecilia论文数: 0 引用数: 0 h-index: 0机构: CHU Besancon, Serv Neuropediat, F-25030 Besancon, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceBlanchard, Gaelle论文数: 0 引用数: 0 h-index: 0机构: HFME Bron, Serv Neuropediat, Hosp Civils Lyon, Lyon, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceVille, Dorothee论文数: 0 引用数: 0 h-index: 0机构: HFME Bron, Serv Neuropediat, Hosp Civils Lyon, Lyon, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceBarthez, Marie Anne论文数: 0 引用数: 0 h-index: 0机构: CHU Tours, Serv Neuropediat, Beranger, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Unite Fonct Genet Med, F-75634 Paris, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceGras, Domitille论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, APHP, Serv Neuropediat, F-75019 Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceAfenjar, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceDorison, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceDoummar, Dianne论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, Francede Villemeur, Thierry Billette论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceAn, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, APHP, Serv Neurol, F-75634 Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceJacquette, Aurelia论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Unite Fonct Genet Med, F-75634 Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceCharles, Perrine论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Unite Fonct Genet Med, F-75634 Paris, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FrancePerrier, Julie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Pediat, F-44035 Nantes 01, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Fac Med, INSERM, UMR S 910, F-13005 Marseille, FranceVercueil, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Serv Electrophysiol Clin, F-38043 Grenoble, France Fac Med, INSERM, UMR S 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