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- [21] Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variantsNEUROLOGY-GENETICS, 2019, 5 (06)论文数: 引用数: h-index:机构:Cayami, Ferdy K.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol, Amsterdam, Netherlands Amsterdam Neurosci, Amsterdam, Netherlands Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Diponegoro Univ, Ctr Biomed Res, Dept Human Genet, Semarang, Indonesia McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaSztriha, Laszlo论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Fac Med, Dept Pediat, Szeged, Hungary McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaYoon, Grace论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Div Neurol, Toronto, ON, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaTran, Luan T.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaGuerrero, Kether论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaHocke, Francois论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet, Ctr Reference Neurogenet, Bordeaux, France McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canadavan Spaendonk, Rosalina M. L.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaFung, Eva L.论文数: 0 引用数: 0 h-index: 0机构: Chinese Univ Hong Kong, Fac Med, Dept Pediat, Hong Kong, Peoples R China McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaD'Arrigo, Stefano论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol C Besta, Dev Neurol Dept, Milan, Italy McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaVasco, Gessica论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Neurosci & Neurorehabil Dept, Rome, Italy McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaThiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp & Clin, Ctr Pediat Genom Med, Kansas City, MO USA Univ Missouri, Kansas CitySch Med, Kansas City, MO 64110 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaNiyazov, Dmitriy M.论文数: 0 引用数: 0 h-index: 0机构: Ochsner Children, Sect Med Genet, Dept Pediat, New Orleans, LA USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaPerson, Richard论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaLewis, Kara Stuart论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Div Neurol, Phoenix, AZ USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaWassmer, Evangeline论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Pediat Neurol, Birmingham, W Midlands, England McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaPrescott, Trine论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Dept Med Genet, Skien, Norway McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaFallon, Penny论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, London, England McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaMcEntagart, Meriel论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, Clin Genet Serv, London, England McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaRankin, Julia论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter Hosp NHS Trust, Clin Genet Dept, Exeter, Devon, England McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaWebster, Richard论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Neurol & Neurosurg, Westmead, NSW, Australia McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaPhilippi, Heike论文数: 0 引用数: 0 h-index: 0机构: Ctr Dev Neurol, Frankfurt, Germany McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canadavan de Warrenburg, Bart论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol, Nijmegen, Netherlands McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Searle, Claire论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Dept Clin Genet, Nottingham, England McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaThakur, Nivedita论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Div Child Neurol, Dept Pediat, Houston, TX 77030 USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaKruer, Michael C.论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Barrow Neurol Inst, Movement Disorders Ctr, Phoenix, AZ USA Phoenix Childrens Hosp, Barrow Neurol Inst, Neurogenet Res Program, Phoenix, AZ USA Arizona State Univ, Program Neurosci, Tempe, AZ USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaSharma, Suvasini论文数: 0 引用数: 0 h-index: 0机构: Lady Hardinge Med Coll & Hosp, Dept Pediat, Div Neurol, New Delhi, India Kalawati Saran Childrens Hosp, New Delhi, India McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaTonduti, Davide论文数: 0 引用数: 0 h-index: 0机构: Neurol Inst C Besta Fdn IRCCS, Dept Child Neurol, Milan, Italy McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Bertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Lab Mol Med, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaGoizet, Cyril论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet, Ctr Reference Neurogenet, Bordeaux, France McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaFribourg, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, INSERM U1212, CNRS 5320, Bordeaux, France McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaWolf, Nicole, I论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol, Amsterdam, Netherlands Amsterdam Neurosci, Amsterdam, Netherlands McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, CanadaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada McGill Univ, Hlth Ctr, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
- [22] Pdgfr α-dependent Polr3b Exon Loss Recapitulates POLR3-related Hypomyelinating Leukodystrophy Phenotypes in vivoNEUROLOGY, 2023, 100 (17)Michell-Robinson, Mackenzie A.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaWatt, Kristin E. N.论文数: 0 引用数: 0 h-index: 0机构: Stowers Inst Med Res, Kansas City, MO USA McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaGrouza, Vladimir论文数: 0 引用数: 0 h-index: 0机构: McConnell Brain Imaging Ctr, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada论文数: 引用数: h-index:机构:Pinard, Maxime论文数: 0 引用数: 0 h-index: 0机构: Montreal Clin Res Inst, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaTuznik, Marius论文数: 0 引用数: 0 h-index: 0机构: McConnell Brain Imaging Ctr, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaChen, Xiaoru论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaDarbelli, Lama论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaWu, Chia-Lun论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada论文数: 引用数: h-index:机构:Chitsaz, Daryan论文数: 0 引用数: 0 h-index: 0机构: Montreal Neurol Inst, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaUccelli, Nonthue A.论文数: 0 引用数: 0 h-index: 0机构: Montreal Neurol Inst, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaLiu, Hanwen论文数: 0 引用数: 0 h-index: 0机构: McConnell Brain Imaging Ctr, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaCox, Timothy论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Sch Med, Kansas City, MO 64108 USA McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaMueller, Christoph W.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, Barcelona, Spain McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaKennedy, Timothy E.论文数: 0 引用数: 0 h-index: 0机构: Montreal Neurol Inst, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaCoulombe, Benoit论文数: 0 引用数: 0 h-index: 0机构: Montreal Clin Res Inst, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaRudko, David论文数: 0 引用数: 0 h-index: 0机构: McConnell Brain Imaging Ctr, Montreal, PQ, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaTrainor, Paul A.论文数: 0 引用数: 0 h-index: 0机构: Stowers Inst Med Res, Kansas City, MO USA McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, CanadaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ H3A 2T5, Canada
- [23] A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onsetBMC NEUROLOGY, 2020, 20 (01)Campopiano, Rosa论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyFerese, Rosangela论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyZampatti, Stefania论文数: 0 引用数: 0 h-index: 0机构: Santa Lucia Fdn IRCCS, Mol Genet Lab UILDM, Rome, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyGiardina, Emiliano论文数: 0 引用数: 0 h-index: 0机构: Santa Lucia Fdn IRCCS, Mol Genet Lab UILDM, Rome, Italy Univ Roma Tor Vergata, Dept Biomed & Prevent, Rome, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyBiagioni, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyColonnese, Claudio论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyCentonze, Diego论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy Univ Roma Tor Vergata, Dipartimento Med Sistemi, Rome, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyStorto, Marianna论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyButtari, Fabio论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyFraviga, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Ist Sci San Raffaele, Div Neurosci, Stem Cell & Neurogenesis Unit, Milan, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyBroccoli, Vania论文数: 0 引用数: 0 h-index: 0机构: Ist Sci San Raffaele, Div Neurosci, Stem Cell & Neurogenesis Unit, Milan, Italy CNR, Inst Neurosci, Milan, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyFanelli, Mirco论文数: 0 引用数: 0 h-index: 0机构: Univ Urbino Carlo Bo, Dept Biomol Sci, Urbino, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyFornai, Francesco论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy Univ Pisa, Dept Translat Res & New Technol Med & Surg, Pisa, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, ItalyGambardella, Stefano论文数: 0 引用数: 0 h-index: 0机构: IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy Univ Urbino Carlo Bo, Dept Biomol Sci, Urbino, Italy IRCCS INM Neuromed, Via Atinense 18, I-86077 Pozzilli, Italy
- [24] A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onsetBMC Neurology, 20Rosa Campopiano论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMRosangela Ferese论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMStefania Zampatti论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMEmiliano Giardina论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMFrancesca Biagioni论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMClaudio Colonnese论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMDiego Centonze论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMMarianna Storto论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMFabio Buttari论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMEdoardo Fraviga论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMVania Broccoli论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMMirco Fanelli论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMFrancesco Fornai论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDMStefano Gambardella论文数: 0 引用数: 0 h-index: 0机构: I.R.C.C.S. I.N.M. Neuromed,Molecular Genetics Laboratory UILDM
- [25] A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case reportBMC PEDIATRICS, 2018, 18Tewari, Vishal V.论文数: 0 引用数: 0 h-index: 0机构: Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaMehta, Ritu论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pathol, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaSreedhar, C. M.论文数: 0 引用数: 0 h-index: 0机构: Army Hosp Referral & Res, Dept Radiol, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaTewari, Kunal论文数: 0 引用数: 0 h-index: 0机构: Base Hosp, Dept Anesthesia, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaMohammad, Akbar论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaGupta, Neerja论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaGulati, Sheffali论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, IndiaKabra, Madhulika论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, New Delhi, India Army Hosp Referral & Res, Dept Pediat, New Delhi 110010, India
- [26] A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case reportBMC Pediatrics, 18Vishal V. Tewari论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsRitu Mehta论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsC. M. Sreedhar论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsKunal Tewari论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsAkbar Mohammad论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsNeerja Gupta论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsSheffali Gulati论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of PediatricsMadhulika Kabra论文数: 0 引用数: 0 h-index: 0机构: Army Hospital (Referral & Research),Departments of Pediatrics
- [27] Heterozygote mutation in POLR3A and AIMP1 genes in patient with hypomyelinating leukodystrophyJOURNAL OF NEUROLOGY, 2014, 261 : S172 - S173Sigatullina, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Barcelona, Spain Tashkent Inst Postgrad Med Educ, Tashkent, Uzbekistan Hosp San Joan de Deu, Barcelona, SpainO'Callaghan, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Barcelona, Spain Hosp San Joan de Deu, Barcelona, SpainGonzalez, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Barcelona, Spain Hosp San Joan de Deu, Barcelona, SpainBaquero, M.论文数: 0 引用数: 0 h-index: 0机构: Neuroimaging Ctr, Barcelona, Spain Hosp San Joan de Deu, Barcelona, SpainMarmiesse, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Santiago de Compostelo, Santiago De Compostela, Spain Hosp San Joan de Deu, Barcelona, SpainArmstrong, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Genet Lab, Barcelona, Spain Hosp San Joan de Deu, Barcelona, Spain
- [28] Heterozygote mutation in POLR3A and AIMP1 genes in a patient with hypomyelinating leukodystrophyEUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 252 - 252Sigatullina, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Barcelona, Spain Tashkent Inst Postgrad Med Educ, Tashkent, Uzbekistan Hosp San Joan de Deu, Barcelona, SpainO'Callaghan, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Barcelona, Spain Hosp San Joan de Deu, Barcelona, SpainGonzalez, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Barcelona, Spain Hosp San Joan de Deu, Barcelona, SpainBaquero, M.论文数: 0 引用数: 0 h-index: 0机构: Neuroimaging Ctr, Barcelona, Spain Hosp San Joan de Deu, Barcelona, SpainMarmiesse, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Santiago de Compostela, Santiago De Compostela, Spain Hosp San Joan de Deu, Barcelona, SpainArmstrong, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp San Joan de Deu, Genet Lab, Barcelona, Spain Hosp San Joan de Deu, Barcelona, Spain
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