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** = Publications listed in SCI/SSCI/Pubmed

2025

Guideline

** von, Kaisenberg, C; Kozlowski, P; Kagan, KO; Hoopmann, M; Heling, KS; Chaoui, R; Klaritsch, P; Pertl, B; Burkhardt, T; Tercanli, S; Frenzel, J; Mundlos, C Firsttrimester Diagnosis and Therapy @ 11-13+6 Weeks of Gestation - Part 1.
Ultraschall Med. 2025; 46(1):36-48 Doi: 10.1055/a-2280-4756
PubMed FullText FullText_MUG

 

** von, Kaisenberg, C; Kozlowski, P; Kagan, KO; Hoopmann, M; Heling, KS; Chaoui, R; Klaritsch, P; Pertl, B; Burkhardt, T; Tercanli, S; Frenzel, J; Mundlos, C Firsttrimester Diagnosis and Therapy @ 11-13+6 Weeks of Gestation - Part 2.
Ultraschall Med. 2025; 46(2):145-161 Doi: 10.1055/a-2280-4887
PubMed FullText FullText_MUG

 

2024

Full paper/article (Journal)

** von, Kaisenberg, C; Kozlowski, P; Kagan, KO; Hoopmann, M; Heling, KS; Chaoui, R; Klaritsch, P; Pertl, B; Burkhardt, T; Tercanli, S; Frenzel, J; Mundlos, C Firsttrimester Diagnosis and Therapy @ 11 - 13 +6 Weeks of Gestation - Part 2 : Guideline of the DEGUM, ÖGUM, SGUMGG, DGGG, ÖGG, Gynecologie Suisse, DGPM, DGPGM, BVF, ACHSE (AWMF S2e LL 085-002 1.1.2024) (https://register.awmf.org/de/leitlinien/detail/085-002).
Geburtshilfe Frauenheilkd. 2024; 84(10): 943-960. Doi: 10.1055/a-2280-8852 [OPEN ACCESS]
PubMed PUBMED Central FullText FullText_MUG

 

** von, Kaisenberg, C; Kozlowski, P; Kagan, KO; Hoopmann, M; Heling, KS; Chaoui, R; Klaritsch, P; Pertl, B; Burkhardt, T; Tercanli, S; Frenzel, J; Mundlos, C Firsttrimester Diagnosis and Therapy @ 11 - 13 +6 Weeks of Gestation - Part 1 : Guideline of the DEGUM, ÖGUM, SGUMGG, DGGG, ÖGG, Gynecologie Suisse, DGPM, DGPGM, BVF, ACHSE (AWMF S2e LL 085-002 1.1.2024) (https://register.awmf.org/de/leitlinien/detail/085-002).
Geburtshilfe Frauenheilkd. 2024; 84(10): 928-941. Doi: 10.1055/a-2280-8772 [OPEN ACCESS]
PubMed PUBMED Central FullText FullText_MUG

 

2019

Full paper/article (Journal)

** Mann, K; Petek, E; Pertl, B Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.
Methods Mol Biol. 2019; 1885: 139-160. Doi: 10.1007/978-1-4939-8889-1_10
PubMed FullText FullText_MUG

 

** Pertl, B; Eder, S; Stern, C; Verheyen, S The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies.
Ultraschall Med. 2019; 40(6): 692-721. Doi: 10.1055/a-1015-0157
Web of Science PubMed FullText FullText_MUG

 

2017

Short report/Letter

** Kroisel, PM; Häusler, M; Klaritsch, P; Karpf, E; Zebedin, D; Tiran, B; Pertl, B; Wagner, K Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound.
Lancet. 2017; 389(10081): 1857-1858. Doi: 10.1016/S0140-6736(17)31049-8 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

2015

Full paper/article (Journal)

** Schmid, M; Klaritsch, P; Arzt, W; Burkhardt, T; Duba, HC; Häusler, M; Hafner, E; Lang, U; Pertl, B; Speicher, M; Steiner, H; Tercanli, S; Merz, E; Heling, KS; Eiben, B Cell-Free DNA Testing for Fetal Chromosomal Anomalies in clinical practice: Austrian-German-Swiss Recommendations for non-invasive prenatal tests (NIPT).
Ultraschall Med. 2015; 36(5):507-510 Doi: 10.1055/s-0035-1553804 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2012

Full paper/article (Journal)

** Nuk, M; Orendi, K; Rosenberger, S; Griesbacher, A; Holzapfel-Bauer, M; Resch, B; Lang, U; Pertl, B Genetic variations in fetal and maternal tumor necrosis factor-α and interleukin 10: is there an association with preterm birth or periventricular leucomalacia?
J Perinatol. 2012; 32(1):27-32 Doi: 10.1038/jp.2011.37 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** Pertl, B; Karpf, E; Juch, H; Koppin, D; Stern, C A case of a transient enlargement of the intracranial translucency.
Prenat Diagn. 2012; 32(13):1324-1325 Doi: 10.1002/pd.3996 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Stern, C; Pertl, B Pregnancy-associated liver disease: an overview
GEBURTSH FRAUENHEILK. 2012; 72(4): 281-284. Doi: 10.1055/s-0031-1298319
Web of Science FullText FullText_MUG

 

Abstract (Journal)

** Karpf, EF; Scholler, TH; Pertl, B; Congenital abdominal aortic aneurysm - diagnosis and examination in the fetal period.
HISTOPATHOLOGY. 2012; 61: 3-3.-29th Congress of the International-Academy-of-Pathology; SEP 30-OCT 05, 2012; Cape Town, SOUTH AFRICA. [Poster]
Web of Science

 

2011

Full paper/article (Journal)

** Mann, K; Petek, E; Pertl, B Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR.
Methods Mol Biol. 2011; 688:207-226 Doi: 10.1007/978-1-60761-947-5_14
PubMed FullText FullText_MUG

 

** Orendi, K; Klein, K; Krampl-Bettelheim, E; Nuk, M; Holzapfel-Bauer, M; Magnet, E; Griesbacher, A; Lang, U; Pertl, B SRY-specific cell free fetal DNA in maternal plasma in twin pregnancies throughout gestation.
Placenta. 2011; 32(8):611-615 Doi: 10.1016/j.placenta.2011.03.009
Web of Science PubMed FullText FullText_MUG

 

2010

Full paper/article (Journal)

** Resch, B; Radinger, A; Mannhalter, C; Horvath, B; Binder, A; Zenz, W; Walcher, W; Haas, J; Müller, WD; Pertl, B Maternal interleukin-6 (-174) C/C polymorphism is associated with chorioamnionitis and cystic periventricular leucomalacia of the preterm infant.
J Perinatol. 2010; 30(11):712-716 Doi: 10.1038/jp.2010.30 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2009

Full paper/article (Journal)

** Bauer, M; Fast, C; Haas, J; Resch, B; Lang, U; Pertl, B Cystic periventricular leukomalacia in preterm infants: an analysis of obstetric risk factors.
Early Hum Dev. 2009; 85(3): 163-169. Doi: 10.1016/j.earlhumdev.2008.07.007
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Bauer, M; Pertl, B On Targeting Cell-Free DNA in Urine: A Protocol for Optimized DNA Analysis
CLIN CHEM. 2009; 55(4): 605-606. Doi: 10.1373/clinchem.2008.121855 [OPEN ACCESS]
Web of Science FullText FullText_MUG

 

2008

Full paper/article (Journal)

** Mann, K; Petek, E; Pertl, B Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR.
Methods Mol Biol. 2008; 444(4):71-94 Doi: 10.1007/978-1-59745-066-9_6
PubMed FullText FullText_MUG

 

Abstract (Journal)

** Magnet, E; Klaritsch, P; Karpf, E; Prayer, D; Brugger, P; Pertl, B; Hausler, M Right side diaphragma hernia and prenatal prognosis condition. A method comparison
GEBURTSH FRAUENHEILK. 2008; 68(4):439-440. [Oral Communication]
Web of Science

 

2007

Full paper/article (Journal)

** Majer, S; Bauer, M; Magnet, E; Strele, A; Giegerl, E; Eder, M; Lang, U; Pertl, B Maternal urine for prenatal diagnosis--an analysis of cell-free fetal DNA in maternal urine and plasma in the third trimester.
Prenat Diagn. 2007; 27(13):1219-1223 Doi: 10.1002/pd.1875
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Eder, M; Giegerl, E; Bauer, M; Lang, U; Pertl, B An analysis of free foetal DNA in maternal urine and plasma in the third trimester.
GEBURTSH FRAUENHEILK. 2007; 67(5):508-508.-Jahrestagung und Fortbildungsveranstaltung der Österr. Ges. für Gyn. und Gebh., OEGGG; Juni 7-9, 2007; München, GERMANY. [Poster]
Web of Science

 

** Magnet, E; Scholl, W; Majer, S; Krampl, E; Lang, U; Pertl, B The concetration of free foetal DNA in maternal plasma in a pregnancy with twins
GEBURTSH FRAUENHEILK. 2007; 67(5):510-510.-Jahrestagung und Fortbildungsveranstaltung der Österr. Ges. f. Gynäkologie und Geburtshilfe (OEGGG); Juni 7-9, 2007; München, GERMANY. [Oral Communication]
Web of Science

 

2006

Full paper/article (Journal)

** Bauer, M; Hutterer, G; Eder, M; Majer, S; Leshane, E; Johnson, KL; Peter, I; Bianchi, DW; Pertl, B A prospective analysis of cell-free fetal DNA concentration in maternal plasma as an indicator for adverse pregnancy outcome.
Prenat Diagn. 2006; 26(9):831-836 Doi: 10.1002/pd.1513
Web of Science PubMed FullText FullText_MUG

 

** Bauer, M; Weger, W; Orescovic, I; Hiebaum, EM; Benedicic, C; Lang, U; Pertl, C; Pertl, B Fetal microchimerism is not involved in the pathogenesis of lichen sclerosus of the vulva.
PRENATAL DIAG. 2006; 26(2): 175-178. Doi: 10.1002/pd.1372
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** Weger, W; Bauer, M; Odell, E; Pertl, B; Cerroni, L; Kerl, H; Jakse, N; Pertl, C Role of microchimerism in the pathogenesis of oral lichen planus.
EXP DERMATOL. 2006; 15(2): 125-129. Doi: 10.1111/j.1600-0625.2006.00393.x
Web of Science PubMed FullText FullText_MUG Google Scholar

 

2004

Full paper/article (Journal)

** Resch, B; Jammernegg, A; Vollaard, E; Maurer, U; Mueller, WD; Pertl, B Preterm twin gestation and cystic periventricular leucomalacia.
ARCH DIS CHILD. 2004; 89(4): F315-F320. Doi: 10.1136/adc.2003.037309 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Abstract (Journal)

** Sedlmayr, P; Hennerbichler, S; Schulz, E; Petek, E; Pertl, B; Wintersteiger, R; Kroisel, P; Dohr, G Non-invasive prenatal diagnostics using slide-based cytometry
CYTOMETRY PART A 2004 60A: 200-200.
Web of Science

 

2003

Full paper/article (Journal)

** Hennerbichler, S; Kroisel, PM; Zierler, H; Pertl, B; Wintersteiger, R; Dohr, G; Sedlmayr, P Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry.
Prenat Diagn. 2003; 23(9):710-715 Doi: 10.1002/pd.668
Web of Science PubMed FullText FullText_MUG Google Scholar

 

** Petek, E; Pertl, B; Tschernigg, M; Bauer, M; Mayr, J; Wagner, K; Kroisel, PM Characterisation of a 19-year-old long-term survivor with Edwards syndrome.
Genet Couns. 2003; 14(2):239-244 (- Case Report)
Web of Science PubMed

 

Review

** Hulten, MA; Dhanjal, S; Pertl, B Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR
REPRODUCTION. 2003; 126(3): 279-297. Doi: 10.1530/reprod/126.3.279 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2002

Full paper/article (Journal)

** Bauer, M; Orescovic, I; Schoell, WM; Bianchi, DW; Pertl, B Detection of maternal deoxyribonucleic acid in umbilical cord plasma by using fluorescent polymerase chain reaction amplification of short tandem repeat sequences.
Am J Obstet Gynecol. 2002; 186(1):117-120 Doi: 10.1067%2Fmob.2002.118306
Web of Science PubMed FullText FullText_MUG

 

** Hennerbichler, S; Schmied, R; Petek, E; Kroisel, PM; Pertl, B; Tiran, B; Dohr, G; Wintersteiger, R; Sedlmayr, P Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry.
Cytometry. 2002; 48(2):87-92 Doi: 10.1002/cyto.10112 [OPEN ACCESS]
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Abstract (Journal)

** Hennerbichler, S; Petek, E; Pertl, B; Dohr, G; Wintersteiger, R; Kroisel, P; Sedlmayr, P Applicability of laser scanning cytometry for detection and relocation of fetal erythroblasts in peripheral blood from pregnant women
CYTOMETRY 2002 SUPPL: 99-99.
Web of Science

 

2001

Full paper/article (Journal)

** Bauer, M; Orescovic, I; Schoell, WM; Bianchi, DW; Pertl, B Detection of maternal DNA in umbilical cord plasma by fluorescent PCR amplification of short tandem repeat sequences.
Ann N Y Acad Sci. 2001; 945(1):161-163 Doi: 10.1111/j.1749-6632.2001.tb03880.x
Web of Science PubMed FullText FullText_MUG

 

** Samura, O; Sohda, S; Johnson, KL; Pertl, B; Ralston, S; Delli-Bovi, LC; Bianchi, DW Diagnosis of trisomy 21 in fetal nucleated erythrocytes from maternal blood by use of short tandem repeat sequences.
Clin Chem. 2001; 47(9):1622-1626 Doi: 10.1093/clinchem/47.9.1622 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** Pertl, B; Bianchi, DW Fetal DNA in maternal plasma: emerging clinical applications.
Obstet Gynecol. 2001; 98(3):483-490 Doi: 10.1016%2FS0029-7844%2801%2901195-4
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Bauer, M; Orescovic, I; Schoell, WM; Bianchi, DW; Pertl, B Detection of maternal DNA in umbilical cord plasma by fluorescent PCR amplification of short tandem repeat sequences
CLIN CHEM 2001 47: 368-369.
Web of Science

 

2000

Full paper/article (Journal)

** Häusler, MCH; Pertl, B Monopolar thermocoagulation of the major vessel in an acardiac twin
GEBURTSH FRAUENHEILK 2000 60: 429-431. Doi: 10.1055/s-2000-7432
Web of Science FullText FullText_MUG

 

** Pertl, B; Pieber, D; Panzitt, T; Haeusler, MC; Winter, R; Tului, L; Brambati, B; Adinolfi, M RhD genotyping by quantitative fluorescent polymerase chain reaction: a new approach.
BJOG. 2000; 107(12):1498-1502 Doi: 10.1111/j.1471-0528.2000.tb11674.x [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

** Pertl, B; Sekizawa, A; Samura, O; Orescovic, I; Rahaim, PT; Bianchi, DW Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats.
Hum Genet. 2000; 106(1):45-49 Doi: 10.1007%2Fs004390051008
Web of Science PubMed FullText FullText_MUG

 

** Pertl, C; Heinemann, A; Pertl, B; Lorenzoni, M; Pieber, D; Eskici, A; Amann, R The pregnant patient in dental care. Survey results and therapeutic guidelines
Schweiz Monatsschr Zahnmed. 2000; 110(1): 37-46.
PubMed

 

** Samura, O; Pertl, B; Sohda, S; Johnson, KL; Sekizawa, A; Falco, VM; Elmes, RS; Bianchi, DW Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin.
Hum Genet. 2000; 107(1):28-32 Doi: 10.1007%2Fs004390050006
Web of Science PubMed FullText FullText_MUG

 

1999

Full paper/article (Journal)

** Pertl, B; Kopp, S; Kroisel, PM; Tului, L; Brambati, B; Adinolfi, M Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples.
J Med Genet. 1999; 36(4):300-303 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText

 

** Pertl, B; Pieber, D; Lercher-Hartlieb, A; Orescovic, I; Haeusler, M; Winter, R; Kroisel, P; Adinolfi, M Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders.
Mol Hum Reprod. 1999; 5(12):1176-1179 Doi: 10.1093/molehr/5.12.1176 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

** Schoell, WM; Klintschar, M; Mirhashemi, R; Pertl, B Separation of sperm and vaginal cells with flow cytometry for DNA typing after sexual assault.
Obstet Gynecol. 1999; 94(4):623-627 Doi: 10.1016%2FS0029-7844%2899%2900373-7
Web of Science PubMed FullText FullText_MUG

 

** Schoell, WM; Klintschar, M; Mirhashemi, R; Strunk, D; Giuliani, A; Bogensberger, G; Pertl, B Separation of sperm and vaginal cells based on ploidy, MHC class I-, CD45-, and cytokeratin expression for enhancement of DNA typing after sexual assault.
Cytometry. 1999; 36(4):319-323 Doi: 10.1002%2F%28SICI%291097-0320%2819990801%2936%3A4%3C319%3A%3AAID-CYTO6%3E3.0.CO%3B2-L [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** Pertl, B; Bianchi, DW First trimester prenatal diagnosis: fetal cells in the maternal circulation.
Semin Perinatol. 1999; 23(5): 393-402. Doi: 10.1016/S0146-0005(99)80005-6
Web of Science PubMed FullText FullText_MUG

 

1998

Full paper/article (Journal)

** Lercherhartlieb, A; Pertl, B; Häusler, M; Pieber, D; Huttner, U; Vadon, M; Winter, R Prenatal Determination of Fetal Rhd Type by Polymerase-Chain-Reaction on Amniocytes - Initial Clinical-Experiences
GEBURTSH FRAUENHEILK 1998 58: 575-579. Doi: 10.1055/s-2007-1022764
Web of Science FullText FullText_MUG

 

Short report/Letter

** Pertl, B; Sherlock, J; Adinolfi, M Rapid prenatal detection of aneuploidies by fluorescent polymerase chain reaction - Reply.
AM J OBSTET GYNECOL . 1998; 178(5): 1101-1102. Doi: 10.1016/S0002-9378(98)70562-9
Web of Science PubMed FullText FullText_MUG

 

1997

Full paper/article (Journal)

** Lercher-Hartlieb, A; Kainer, F; Pertl, B; Winter, R Thyroid gland function in pregnant diabetic patients
Acta Med Austriaca. 1997; 24(4):144-145
Web of Science PubMed

 

** Pertl, B; Häusler, M; Huttner, U; Gruber, SE; Stoschitzky, P; Kainer, F Diagnostic and Therapeutic Management of Pregnancies Complicated by Parvovirus B19 Infection
GEBURTSH FRAUENHEILK 1997 57: 128-131. Doi: 10.1055/s-2007-1023054
Web of Science FullText FullText_MUG

 

** Pertl, B; Kopp, S; Kroisel, PM; Häusler, M; Sherlock, J; Winter, R; Adinolfi, M Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex.
Am J Obstet Gynecol. 1997; 177(4):899-906 Doi: 10.1016/S0002-9378(97)70292-8
Web of Science PubMed FullText FullText_MUG Google Scholar

 

Review

** Adinolfi, M; Pertl, B; Sherlock, J Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction.
Prenat Diagn. 1997; 17(13):1299-1311 Doi: 10.1002%2F%28SICI%291097-0223%28199712%2917%3A13%3C1299%3A%3AAID-PD297%3E3.0.CO%3B2-H
Web of Science PubMed FullText FullText_MUG

 

** Haeusler, MC; Pertl, B Diagnosis and therapy of fetal thyroid gland dysfunction in primary maternal disease.
Acta Med Austriaca. 1997; 24(4):159-161
Web of Science PubMed

 

1996

Full paper/article (Journal)

** Häusler, MC; Berghold, A; Zierler, H; Behmel, A; Pertl, B The triple test scenario for Styria. With data of the Styria Abnormalities Register
Gynakol Geburtshilfliche Rundsch. 1996; 36(3):169-177 Doi: 10.1159/000272647
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** Pertl, B; Lahousen, M; Pieber, D; Heydarfadai, HJ; Giuliani, A Value of ultrasound in early detection of endometrial carcinoma
Gynakol Geburtshilfliche Rundsch. 1996; 36(1):14-20 Doi: 10.1159/000272606
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** Pertl, B; Weitgasser, U; Kopp, S; Kroisel, PM; Sherlock, J; Adinolfi, M Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR.
Hum Genet. 1996; 98(1):55-59 Doi: 10.1007/s004390050159
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1995

Full paper/article (Journal)

** Adinolfi, M; Sherlock, J; Pertl, B Rapid detection of selected aneuploidies by quantitative fluorescent PCR.
Bioessays. 1995; 17(7): 661-664. Doi: 10.1002/bies.950170712
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1994

Full paper/article (Journal)

** Kainer, F; Pertl, B; Netzbandt, P; Fast, C Effect of ultrasound examination on fetal version of breech presentation
GEBURTSH FRAUENHEILK. 1994; 54(2): 108-110. Doi: 10.1055/s-2007-1023563 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Pertl, B; Davies, A; Soothill, P; Rodeck, C; Adinolfi, M Detection of fetal cells in endocervical samples.
Ann N Y Acad Sci. 1994; 731(7): 186-192. Doi: 10.1111/j.1749-6632.1994.tb55768.x
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Note

** Pertl, B; Yau, SC; Sherlock, J; Davies, AF; Mathew, CG; Adinolfi, M Rapid molecular method for prenatal detection of Down's syndrome.
LANCET. 1994; 343(8907): 1197-1198. Doi: 10.1016%2FS0140-6736%2894%2992404-X
Web of Science PubMed FullText FullText_MUG

 

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