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- [1] Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1282 - 1283Romano, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, GermanyTafazzoli, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, GermanyMattern, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, GermanySivalingam, S.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, GermanyWolf, S.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, GermanyRupp, A.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Lab Med, Munich, Germany Inst Human Genet, Bonn, Germany论文数: 引用数: h-index:机构:Altmueller, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany Inst Human Genet, Bonn, GermanyNuernberg, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany Inst Human Genet, Bonn, GermanyEllwanger, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, GermanyGambon, R.论文数: 0 引用数: 0 h-index: 0机构: Pediat Practice Feldstr, Thusis, Switzerland Inst Human Genet, Bonn, GermanyBaumer, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland Inst Human Genet, Bonn, GermanyKohlschmidt, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Clin Genet, Bonn, Germany Inst Human Genet, Bonn, GermanyMetze, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Dept Dermatol, Munster, Germany Inst Human Genet, Bonn, GermanyHoldenrieder, S.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Lab Med, Munich, Germany Inst Human Genet, Bonn, GermanyPaus, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Inst Human Genet, Ctr Dermatol Res, Manchester, Lancs, England Inst Human Genet, Bonn, GermanyLuetjohann, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Clin Chem & Clin Pharmacol, Bonn, Germany Inst Human Genet, Bonn, GermanyFrank, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Dermatol Venereol & Allergol, Gottingen, Germany Inst Human Genet, Bonn, GermanyGeyer, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Struct Immunol, Inst Innate Immun, Bonn, Germany Inst Human Genet, Bonn, GermanyBertolini, M.论文数: 0 引用数: 0 h-index: 0机构: Monasterium Lab Skin & Hair Res Solut GmbH, Munster, Germany Inst Human Genet, Bonn, GermanyKokordelis, P.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, GermanyBetz, R. C.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Bonn, Germany Inst Human Genet, Bonn, Germany
- [2] Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 110 (03) : 499 - 515Serey-Gaut, Margaux论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceCortes, Marisol论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceMakrythanasis, Periklis论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Fac Med, CH-1211 Geneva, Switzerland Natl & Kapodistrian Univ Athens, Med Sch, Lab Med Genet, Athens, Greece Acad Athens, Biomed Res Fdn, Athens, Greece Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceSuri, Mohnish论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Clin Genet Serv, Nottingham, England Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceTaylor, Alexander M. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceSullivan, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Med Ctr, Durham, NC USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceAsleh, Ayat N.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceMitra, Jaba论文数: 0 引用数: 0 h-index: 0机构: JHU Howard Hughes Med Inst, Dept Biophys & Biophys Chem Biophys & Biomed Engn, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceDar, Mohamad A.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceMcNamara, Amy论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Med Ctr, Durham, NC USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceDugan, Sarah论文数: 0 引用数: 0 h-index: 0机构: Providence Med Grp Genet Clin, Spokane, WA USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceSong, Xiaofei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA H Lee Moffitt Canc Ctr & Res Inst, Dept Biostat & Bioinformat, Tampa, FL 33612 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceRosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceCabrol, Christelle论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Pehlivan, Davut论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceAkdemir, Zeynep Coban论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceRoeder, Elizabeth R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceLittlejohn, Rebecca Okashah论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceDibra, Harpreet K.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceByrd, Philip J.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceStewart, Grant S.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Inst Canc & Genom Sci, Birmingham, W Midlands, England Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceGeckinli, Bilgen B.论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Dept Med Genet, Sch Med, TR-34722 Istanbul, Turkiye Univ Franche Comte, Ctr Genet Humaine, Besancon, FrancePosey, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceWestman, Rachel论文数: 0 引用数: 0 h-index: 0机构: Providence Med Grp Genet Clin, Spokane, WA USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceJungbluth, Chelsy论文数: 0 引用数: 0 h-index: 0机构: Providence Med Grp Genet Clin, Spokane, WA USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceEason, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Clin Genet Serv, Nottingham, England Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceSachdev, Rani论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceEvans, Carey-Anne论文数: 0 引用数: 0 h-index: 0机构: Neurosci Res Australia NeuRA Inst, Sydney, NSW, Australia Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceLemire, Gabrielle论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceVanNoy, Grace E.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceO'Donnell-Luria, Anne论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceMau-Them, Frederic Tran论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, UF6254 Innovat Diagnost Genom Malad Rares, Dijon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceJuven, Aurelien论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, UF6254 Innovat Diagnost Genom Malad Rares, Dijon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, FrancePiard, Juliette论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceNixon, Cheng Yee论文数: 0 引用数: 0 h-index: 0机构: Neurosci Res Australia NeuRA Inst, Sydney, NSW, Australia Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceZhu, Ying论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, New South Wales Hlth Pathol Randwick Genom, Sydney, NSW, Australia Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceHa, Taekjip论文数: 0 引用数: 0 h-index: 0机构: JHU Howard Hughes Med Inst, Dept Biophys & Biophys Chem Biophys & Biomed Engn, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceBuckley, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, New South Wales Hlth Pathol Randwick Genom, Sydney, NSW, Australia Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceThauvin, Christel论文数: 0 引用数: 0 h-index: 0机构: Bourgogne Franche Comte Univ, INSERM UMR1231 GAD, Dijon, France Dijon Burgundy Univ Hosp, Federat Hosp Univ Med Translat & Anomalies Dev TR, Dijon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceUmanah, George K. Essien论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA NINDS, Div Neurosci, NIH, Bethesda, MD USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceVan Maldergem, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France CHU, INSERM, Clin Invest Ctr 1431, Besancon, France Univ Franche Comte, EA481 Integrat & Cognit Neurosci Res Unit, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceLupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceRoscioli, Tony论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Neurosci Res Australia NeuRA Inst, Sydney, NSW, Australia Prince Wales Hosp, New South Wales Hlth Pathol Randwick Genom, Sydney, NSW, Australia Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceDawson, Valina L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Physiol, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceDawson, Ted M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Inst Cell Engn, Neuroregenerat Program, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Inst Cell Engn, Sch Med, Stem Cell Program, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21205 USA Johns Hopkins Univ, Dept Pharmacol & Mol Sci, Sch Med, Baltimore, MD 21205 USA Univ Franche Comte, Ctr Genet Humaine, Besancon, FranceAntonarakis, Stylianos E.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21205 USA Univ Hosp Geneva, Serv Genet Med, Geneva, Switzerland Univ Geneva, Dept Genet Med & Dev, Fac Med, CH-1211 Geneva, Switzerland Swiss Inst Genom Med, Medigenome, CH-1207 Geneva, Switzerland Univ Franche Comte, Ctr Genet Humaine, Besancon, France
- [3] Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (04) : 869 - 878Richard, Elodie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAPolla, Daniel L.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, NL-6500 HE Nijmegen, Netherlands Minist Educ Brazil, CAPES Fdn, BR-DF700400 Brasilia, DF, Brazil Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAAssir, Muhammad Zaman论文数: 0 引用数: 0 h-index: 0机构: Shaheed Zulfiqar Ali Bhutto Med Univ, Ctr Genet Dis, Pakistan Inst Med Sci, Islamabad 44000, Pakistan Univ Hlth Sci, Allama Iqbal Med Coll, Lahore 54550, Pakistan Univ Hlth Sci, Allama Iqbal Med Coll, Jinnah Burn & Reconstruct Surg Ctr, Lahore 54550, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAContreras, Minerva论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Physiol, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAShahzad, Mohsin论文数: 0 引用数: 0 h-index: 0机构: Shaheed Zulfiqar Ali Bhutto Med Univ, Ctr Genet Dis, Pakistan Inst Med Sci, Islamabad 44000, Pakistan Univ Hlth Sci, Allama Iqbal Med Coll, Jinnah Burn & Reconstruct Surg Ctr, Lahore 54550, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAKhan, Asma A.论文数: 0 引用数: 0 h-index: 0机构: Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USARazzaq, Attia论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, NL-6500 HE Nijmegen, Netherlands Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAAkram, Javed论文数: 0 引用数: 0 h-index: 0机构: Shaheed Zulfiqar Ali Bhutto Med Univ, Ctr Genet Dis, Pakistan Inst Med Sci, Islamabad 44000, Pakistan Univ Hlth Sci, Allama Iqbal Med Coll, Jinnah Burn & Reconstruct Surg Ctr, Lahore 54550, Pakistan Univ Hlth Sci, Lahore 54000, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USATarar, Moazzam N.论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Allama Iqbal Med Coll, Jinnah Burn & Reconstruct Surg Ctr, Lahore 54550, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USABlanpied, Thomas A.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Physiol, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAAhmed, Zubair M.论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAAbou Jamra, Rami论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Inst Human Genet, Leipzig, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45147 Essen, Germany Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, D-45147 Essen, Germany Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USAvan Bokhoven, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit & Behav, NL-6500 HE Nijmegen, Netherlands Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USARiazuddin, Sheikh论文数: 0 引用数: 0 h-index: 0机构: Shaheed Zulfiqar Ali Bhutto Med Univ, Ctr Genet Dis, Pakistan Inst Med Sci, Islamabad 44000, Pakistan Univ Hlth Sci, Allama Iqbal Med Coll, Jinnah Burn & Reconstruct Surg Ctr, Lahore 54550, Pakistan Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore 53700, Pakistan Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USARiazuddin, Saima论文数: 0 引用数: 0 h-index: 0机构: Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA
- [4] Bi-allelic variants in HCRT cause autosomal recessive narcolepsy[J]. Neurogenetics, 2024, 25 : 79 - 83Wejdan Hakami论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of PediatricsFarah Thabet论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of PediatricsAmal Alhashem论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of PediatricsAbdulaziz Alghamdi论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of PediatricsSaad Alshahwan论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of PediatricsFowzan S. Alkuraya论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of PediatricsBrahim Tabarki论文数: 0 引用数: 0 h-index: 0机构: Prince Sultan Military Medical City,Pediatric Neurology, Department of Pediatrics
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