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A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes Dis. 2024 May; 11(3):101025.
Sun M, Kaminsky CK, Deppe P, Ilse MB, Vaz FM, Plecko B, Lübke T, Randolph LM. PMID: 38292179; PMCID: PMC10825285.
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PubMed Mentions:
4
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Infant with Asymmetric Crying Facies. Neoreviews. 2023 01 01; 24(1):47-50.
Eskandar-Afshari F, Liu J, Randolph LM, Nair S. PMID: 36587007.
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Humans
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Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care. Genet Med. 2021 10; 23(10):1854-1863.
Crawford SA, Gong CL, Yieh L, Randolph LM, Hay JW. PMID: 34040192.
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3 Fields:
Translation:
Humans
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Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy. Mol Genet Metab. 2021 05; 133(1):100-108.
Garcia P, Phillips D, Johnson J, Martin K, Randolph LM, Rosenfeld H, Harmatz P. PMID: 33775523.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning. JAMA Netw Open. 2020 11 02; 3(11):e2022199.
AbdAlmageed W, Mirzaalian H, Guo X, Randolph LM, Tanawattanacharoen VK, Geffner ME, Ross HM, Kim MS. PMID: 33206189; PMCID: PMC7675110.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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When moments matter: Finding answers with rapid exome sequencing. Mol Genet Genomic Med. 2020 02; 8(2):e1027.
Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. PMID: 31872981; PMCID: PMC7005623.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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PEDIA: prioritization of exome data by image analysis. Genet Med. 2019 12; 21(12):2807-2814.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Ðukic D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wisniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM. PMID: 31164752; PMCID: PMC6892739.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genet Med. 2019 11; 21(11):2644-2649.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM. PMID: 31147633; PMCID: PMC7848850.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells
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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 03; 21(3):764-765.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. PMID: 30275510; PMCID: PMC7608433.
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Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation. Osteoporos Int. 2018 Nov; 29(11):2575-2579.
Akhtar Ali S, Ng C, Votava-Smith JK, Randolph LM, Pitukcheewanont P. PMID: 30206659.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 04; 21(4):867-876.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. PMID: 30190611; PMCID: PMC6752285.
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PubMed Mentions:
59 Fields:
Translation:
Humans
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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res. 2018; 3:46.
Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Rahman N. PMID: 29900417; PMCID: PMC5964628.
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PubMed Mentions:
64
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8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk. Clin Chem. 2018 03; 64(3):611-613.
Fu X, Karimov C, Randolph LM, Russi AS. PMID: 29491000.
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Translation:
HumansAnimals
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Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA. Prenat Diagn. 2017 03; 37(3):296-298.
Uquillas K, Chan Y, King JR, Randolph LM, Incerpi M. PMID: 28004393.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Phenotype of 7q11.23 duplication: A family clinical series. Am J Med Genet A. 2017 Jan; 173(1):114-119.
Earhart BA, Williams ME, Zamora I, Randolph LM, Votava-Smith JK, Marcy SN. PMID: 27615053.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation. Fetal Diagn Ther. 2017; 41(3):234-236.
Votava-Smith JK, Pitukcheewanont P, Randolph LM, Chmait RH. PMID: 26982014.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov; 36(11):1052-63.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. PMID: 26178382; PMCID: PMC5049609.
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PubMed Mentions:
101 Fields:
Translation:
Humans
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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. Eur J Hum Genet. 2015 May; 23(5):663-71.
Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T. PMID: 25118026; PMCID: PMC4402629.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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Treatment of alpha(0)-thalassemia (--(SEA)/--(SEA)) via serial fetal and post-natal transfusions: Can early fetal intervention improve outcomes? Hematology. 2015 May; 20(4):217-22.
Chmait RH, Baskin JL, Carson S, Randolph LM, Hamilton A. PMID: 25116001.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Hepatoblastoma in a 15-month-old female with trisomy 13. Am J Med Genet A. 2014 Feb; 164A(2):472-5.
Shah R, Tran HC, Randolph L, Mascarenhas L, Venkatramani R. PMID: 24311532.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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The childless man. Am J Med Genet A. 2014 Feb; 164A(2):561.
Scheuerle AE, Picconi JL, Neidich J, Panny S, Plecher BA, Randolph LM, Trapane P, Trotter TL. PMID: 24311465.
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PubMed Mentions: Fields:
Translation:
Humans
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Absent aortic valve associated with double outlet right ventricle and aortopulmonary window: physiologic implications of a rare malformation in both the fetus and neonate. Congenit Heart Dis. 2014 May-Jun; 9(3):E98-E104.
Sabati AA, Wong PC, Randolph L, Pruetz JD. PMID: 23701730.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Chimerism in monochorionic dizygotic twins: case study and review. Am J Med Genet A. 2013 Jul; 161A(7):1817-24.
Chen K, Chmait RH, Vanderbilt D, Wu S, Randolph L. PMID: 23703979.
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PubMed Mentions:
13 Fields:
Translation:
HumansAnimalsCells
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Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A. 2013 Apr; 161A(4):717-31.
Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG. PMID: 23495017.
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PubMed Mentions:
62 Fields:
Translation:
Humans
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In utero detection of retinoblastoma with fetal magnetic resonance and ultrasound: initial experience. AJP Rep. 2012 Nov; 2(1):55-62.
Paquette LB, Miller D, Jackson HA, Lee T, Randolph L, Murphree AL, Panigrahy A. PMID: 23946908; PMCID: PMC3653521.
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PubMed Mentions:
9
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Prevalence of noncardiac structural anomalies in twin-twin transfusion syndrome. J Ultrasound Med. 2012 Apr; 31(4):555-60.
Patel S, Randolph LM, Benirschke K, Llanes A, Yedigarova L, Chmait RH. PMID: 22441911.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. BMC Med Genet. 2012 Mar 22; 13:19.
Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A. PMID: 22436304; PMCID: PMC3359208.
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PubMed Mentions:
30 Fields:
Translation:
HumansAnimalsCells
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Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. Mol Genet Metab. 2011 Feb; 102(2):149-52.
Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG. PMID: 21093335.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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Discordant blood chimerism in dizygotic monochorionic laser-treated twin-twin transfusion syndrome. Obstet Gynecol. 2010 Aug; 116 Suppl 2:483-485.
Assaf SA, Randolph LM, Benirschke K, Wu S, Samadi R, Chmait RH. PMID: 20664426.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol. 2010 Jan; 31(1):138-41.
Kung GC, Chang PM, Sklansky MS, Randolph LM. PMID: 19967352.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Agenesis of the ductus venosus in a fetus with nonmosaic trisomy 22. Prenat Diagn. 2009 Sep; 29(9):901-2.
Barseghyan K, Sklansky MS, Paquette LB, Randolph LM, Miller DA. PMID: 19499517.
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PubMed Mentions:
2 Fields:
Translation:
HumansCells
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L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. Pediatr Surg Int. 2009 Sep; 25(9):823-5.
Jackson SR, Guner YS, Woo R, Randolph LM, Ford H, Shin CE. PMID: 19641926; PMCID: PMC2734257.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect. Am J Med Genet A. 2009 Jun; 149A(6):1231-6.
Jackson P, Paquette L, Watiker V, Randolph L, Ramanathan R, Seri I. PMID: 19334090.
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PubMed Mentions:
5 Fields:
Translation:
HumansPHPublic Health
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Fetal microphthalmia diagnosed by magnetic resonance imaging. Fetal Diagn Ther. 2008; 24(3):182-5.
Paquette L, Randolph L, Incerpi M, Panigrahy A. PMID: 18753754.
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PubMed Mentions:
5 Fields:
Translation:
Humans