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- [1] Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH geneMOLECULAR GENETICS AND METABOLISM, 2007, 92 (03) : 243 - 248Quagliarini, Fabiana论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyVallve, Joan-Carles论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyCampagna, Filomena论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyAlvaro, Adriana论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyFuentes-Jimenez, Francisco Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalySirinian, Maria Isabella论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyMeloni, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyMasana, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, ItalyArca, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Policlin Umberto I, Unit Med Therapy, Dept Clin & Med Therapy, I-00161 Rome, Italy
- [2] Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH:: a clinical and molecular genetic analysisLANCET, 2002, 359 (9309): : 841 - 847Arca, M论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAZuliani, G论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAWilund, K论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USACampagna, F论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAFellin, R论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USABertolini, S论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USACalandra, S论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USARicci, G论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAGlorioso, N论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAMaioli, M论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAPintus, P论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USACarru, C论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USACossu, F论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USACohen, J论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USAHobbs, HH论文数: 0 引用数: 0 h-index: 0机构: Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USA
- [3] The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identificationGENE, 2015, 555 (01) : 23 - 32Fellin, Renato论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, Italy Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, ItalyArca, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, ItalyZuliani, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, Italy Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, ItalyCalandra, Sebastiano论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, I-44125 Modena, Italy Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, ItalyBertolini, Stefano论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Internal Med, I-16132 Genoa, Italy Univ Ferrara, Dept Clin & Expt Med, Sect Internal Med Gerontol & Nutr, I-44124 Ferrara, Italy
- [4] Analysis of autosomal recessive hypercholesterolemia (ARH) knockout mouseATHEROSCLEROSIS SUPPLEMENTS, 2003, 4 (02) : 151 - 151Harada-Shiba, M论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanTakagi, A论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanAbe, E论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanOhira, M论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanMiyamoto, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanIkeda, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanAsada, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, JapanYokoyama, S论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Res Inst, Suita, Osaka 565, Japan
- [5] Haplotype analysis of autosomal recessive hypercholesterolemia (ARH) gene and its possible involvement in hypercholesterolemiaATHEROSCLEROSIS SUPPLEMENTS, 2003, 4 (02) : 244 - 244Harada, K论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanMiyamoto, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanMorisaki, H论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanHarada-Shiba, M论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanMakino, H论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanDoi, K论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanKoh, H论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanSaito, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanMorisaki, T论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, JapanYoshimasa, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Cardiovasc Ctr, Dept Med, Div Atherosclerosis & Diabet, Suita, Osaka, Japan
- [6] Arrestin gene mutations in autosomal recessive retinitis pigmentosaARCHIVES OF OPHTHALMOLOGY, 1998, 116 (04) : 498 - 501Nakazawa, M论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, JapanWada, Y论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, JapanTamai, M论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Ophthalmol, Aoba Ku, Sendai, Miyagi 9808574, Japan
- [7] Autosomal recessive primary microcephaly due to ASPM mutations: An updateHUMAN MUTATION, 2018, 39 (03) : 319 - 332Letard, Pascaline论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Hop Univ Jean Verdier, AP HP, Serv Anat & Cytol Pathol, Bondy, France Univ Paris 13, Sorbonne Paris Cite, UFR Sante Med & Biol Humaine, Bobigny, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France论文数: 引用数: h-index:机构:Vial, Yoann论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Hop Univ Robert Debre, AP HP, Dept Genet, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceDuerinckx, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme, Dept Med Genet, Brussels, Belgium Univ Libre Bruxelles, IRIBHM, Brussels, Belgium Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceErnault, Anais论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, AP HP, Dept Genet, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceAmram, Daniel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Intercommunal Creteil, Unite Genet Clin, Creteil, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceArpin, Stephanie论文数: 0 引用数: 0 h-index: 0机构: CHRU Tours, Serv Genet Clin, Tours, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceBertoli, Marta论文数: 0 引用数: 0 h-index: 0机构: Newcastle Upon Tyne NHS Trust, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceBusa, Tiffany论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Timone Enfants, AP HM, Serv Genet Clin, Marseille, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France论文数: 引用数: h-index:机构:Desir, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme, Dept Med Genet, Brussels, Belgium Univ Libre Bruxelles, IRIBHM, Brussels, Belgium Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceDoco-Fenzy, Martine论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Hop Maison Blanche, Serv Genet, Reims, France EA3801 SFR CAPSANTE, Reims, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceElalaoui, Siham Chafai论文数: 0 引用数: 0 h-index: 0机构: Univ Mohamed V Rabat, Fac Med & Pharm Rabat, Ctr Genom Humaine, Rabat, Morocco Inst Natl Hyg, Dept Genet Med, Rabat, Morocco Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceDevriendt, Koenraad论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Human Genet, Leuven, Belgium Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon Bourgogne, Serv Genet Med, Dijon, France Ctr Hosp Univ Dijon Bourgogne, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceFrancannet, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serve Genet Med, Clermont Ferrand, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceGenevieve, David论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Genet Med Malad Rares & Med Personnalisee, Montpellier, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceGerard, Marion论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Serv Genet Clin, Caen, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceGitiaux, Cyril论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Necker Enfants Malad, AP HP, Dept Neurol Pediat, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceJulia, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Serv Genet Med, Toulouse, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceLebon, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Lausanne Univ Hosp CHUV, Dept Femme Mere Enfant, Unite Neuropediat & Neurorehabil Pediat, Lausanne, Switzerland Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceLubala, Toni论文数: 0 引用数: 0 h-index: 0机构: Univ Lubumbashi, Sendwe Univ Hosp, Dept Pediat, Lubumbashi, DEM REP CONGO Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceMathieu-Dramard, Michele论文数: 0 引用数: 0 h-index: 0机构: CHU Amiens, Ctr Activite Genet Clin & Oncogenet, Amiens, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceMaurey, Helene论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Bicetre, AP HP, Serv Neurol Pediat, Le Kremlin Bicetre, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceMetreau, Julia论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Bicetre, AP HP, Serv Neurol Pediat, Le Kremlin Bicetre, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceNasserereddine, Sanaa论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Ibn Rochd, Lab Genet & Pathol Mol, Casablanca, Morocco Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceNizon, Mathilde论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Dept Genet, Nantes, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FrancePierquin, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Liege, Dept Genet, Liege, Belgium Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FrancePouvreau, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Hop Univ Robert Debre, AP HP, Dept Genet, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceRivier-Ringenbach, Clothilde论文数: 0 引用数: 0 h-index: 0机构: Hop Nord Ouest Villefranche, Serv Pediat, Gleize, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceRossi, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Dept Genet, Lyon, France Univ Claude Bernard Lyon 1, Ctr Rech Neurosci Lyon, INSERMU1028, CNRS UMR5292,GENDEV Team, Bron, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceSchaefer, Elise论文数: 0 引用数: 0 h-index: 0机构: CHU Strasbourg, Serv Genet Med, Strasbourg, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceSefiani, Abdelaziz论文数: 0 引用数: 0 h-index: 0机构: Univ Mohamed V Rabat, Fac Med & Pharm Rabat, Ctr Genom Humaine, Rabat, Morocco Inst Natl Hyg, Dept Genet Med, Rabat, Morocco Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceSigaudy, Sabine论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Timone Enfants, AP HM, Serv Genet Clin, Marseille, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceSznajer, Yves论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Clin Univ St Luc, Ctr Human Genet, Brussels, Belgium Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceTunca, Yusuf论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Gulhane Sch Med, Gulhane Training & Res Hosp, Dept Med Genet, Ankara, Turkey Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceGuilmin Crepon, Sophie论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, AP HP, Unite Epidemiol Clin, Paris, France Univ Paris Diderot, INSERM, CIC EC 1426, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France论文数: 引用数: h-index:机构:Elmaleh-Berges, Monique论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Robert Debre, AP HP, Serv Radiol, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceBenzacken, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Univ Paris 13, Sorbonne Paris Cite, UFR Sante Med & Biol Humaine, Bobigny, France Hop Univ Jean Verdier, AP HP, Lab Histol Embryol Cytogenet BDR CECOS, Bondy, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceWollnick, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Humangenet, Gottingen, Germany Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceWoods, C. Geoffrey论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Cambridge Inst Med Res, Addenbrookes Hosp, Cambridge, England Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France论文数: 引用数: h-index:机构:Abramowicz, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme, Dept Med Genet, Brussels, Belgium Univ Libre Bruxelles, IRIBHM, Brussels, Belgium Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceEl Ghouzzi, Vincent论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceGressens, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Kings Coll London, Ctr Developing Brain, St Thomas Campus, London, England Hop Univ Robert Debre, AP HP, Serv Neuropediat, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, FranceVerloes, Alain论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France Hop Univ Robert Debre, AP HP, Dept Genet, Paris, France Univ Paris Diderot, Sorbonne Paris Cite, INSERM, PROTECT, Paris, France论文数: 引用数: h-index:机构:
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- [9] Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasiaCLINICAL GENETICS, 2015, 87 (05) : 496 - 498Tham, E.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNishimura, G.论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Pediat Imaging, Tokyo, Japan Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenGeiberger, S.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Pediat Radiol, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenHoremuzova, E.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden Karolinska Univ Hosp, Paediat Endocrinol Unit, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNilsson, D.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Sci Life Lab, Solna, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenLindstrand, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenHammarsjo, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenArmenio, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenMakitie, O.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Folkhalsan Inst Genet, Helsinki, Finland Univ Helsinki, Helsinki, Finland Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenZabel, B.论文数: 0 引用数: 0 h-index: 0机构: Freiburg Univ Hosp, Ctr Paediat & Adolescent Med, Pediat Genet Div, Freiburg, Germany Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNordgren, A.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenNordenskjold, M.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Inst, Ctr Mol Med, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden论文数: 引用数: h-index:机构:
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