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Items: 1 to 50 of 104

1.

Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.

Shaffer JR, LeClair J, Carlson JC, Feingold E, Buxó CJ, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Murray JC, Weinberg SM, Marazita ML, Leslie EJ.

Am J Med Genet A. 2018 Dec 24. doi: 10.1002/ajmg.a.61002. [Epub ahead of print]

PMID:
30582786
2.

Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

Carlson JC, Nidey NL, Butali A, Buxo CJ, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Moreno-Uribe LM, Orioli IM, Poletta FA, Padilla C, Vieira AR, Weinberg SM, Wehby GL, Feingold E, Murray JC, Marazita ML, Leslie EJ.

Genet Epidemiol. 2018 Oct;42(7):664-672. doi: 10.1002/gepi.22158. Epub 2018 Sep 11.

PMID:
30277614
3.

ICD-10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system.

do Nascimento RL, Castilla EE, Dutra MDG, Orioli IM.

Am J Med Genet A. 2018 Apr;176(4):907-914. doi: 10.1002/ajmg.a.38634. Epub 2018 Feb 9.

PMID:
29424949
4.

PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate.

Vieira AR, Letra A, Silva RM, Granjeiro JM, Shimizu T, Poletta FA, Mereb JC, Castilla EE, Orioli IM.

J Craniofac Surg. 2018 Mar;29(2):347-352. doi: 10.1097/SCS.0000000000004159.

PMID:
29381645
5.

Third molar agenesis as a potential marker for craniofacial deformities.

Fernandez CCA, Pereira CVCA, Luiz RR, Faraco IM Jr, Marazita ML, Arnaudo M, de Carvalho FM, Poletta FE, Mereb JC, Castilla EE, Orioli IM, de Castro Costa M, Vieira AR.

Arch Oral Biol. 2018 Apr;88:19-23. doi: 10.1016/j.archoralbio.2018.01.010. Epub 2018 Jan 19.

6.

Prevalence and clinical profile of microcephaly in South America pre-Zika, 2005-14: prevalence and case-control study.

Orioli IM, Dolk H, Lopez-Camelo JS, Mattos D, Poletta FA, Dutra MG, Carvalho FM, Castilla EE.

BMJ. 2017 Nov 21;359:j5018. doi: 10.1136/bmj.j5018.

7.

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.

Carlson JC, Standley J, Petrin A, Shaffer JR, Butali A, Buxó CJ, Castilla E, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Garidkhuu A, Moreno Uribe LM, Nagato N, Orioli IM, Padilla C, Poletta F, Suzuki S, Vieira AR, Wehby GL, Weinberg SM, Beaty TH, Feingold E, Murray JC, Marazita ML, Leslie EJ.

Genet Epidemiol. 2017 Dec;41(8):887-897. doi: 10.1002/gepi.22090. Epub 2017 Nov 10.

8.

Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

Leslie EJ, Carlson JC, Shaffer JR, Buxó CJ, Castilla EE, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E, Weinberg SM, Murray JC, Marazita ML.

Am J Med Genet A. 2017 Jun;173(6):1531-1538. doi: 10.1002/ajmg.a.38210. Epub 2017 Apr 19.

9.

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

Leslie EJ, Carlson JC, Shaffer JR, Butali A, Buxó CJ, Castilla EE, Christensen K, Deleyiannis FW, Leigh Field L, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E, Weinberg SM, Murray JC, Beaty TH, Marazita ML.

Hum Genet. 2017 Mar;136(3):275-286. doi: 10.1007/s00439-016-1754-7. Epub 2017 Jan 4.

10.

Uniparental ancestry markers in Chilean populations.

Vieira-Machado CD, Tostes M, Alves G, Nazer J, Martinez L, Wettig E, Pizarro Rivadeneira O, Diaz Caamaño M, Larenas Ascui J, Pavez P, Dutra MD, Castilla EE, Orioli IM.

Genet Mol Biol. 2016 Oct-Dec;39(4):573-579. doi: 10.1590/1678-4685-GMB-2015-0273. Epub 2016 Aug 4.

11.

Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations.

Vieira-Machado CD, de Carvalho FM, Santana da Silva LC, Dos Santos SE, Martins C, Poletta FA, Mereb JC, Vieira AR, Castilla EE, Orioli IM.

Eur J Oral Sci. 2016 Aug;124(4):406-11. doi: 10.1111/eos.12275. Epub 2016 Apr 23.

PMID:
27105611
12.

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

Leslie EJ, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Czeizel AE, Field LL, Padilla CD, Cutiongco-de la Paz EM, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Abate F, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Murray JC, Marazita ML.

Hum Mol Genet. 2016 Jul 1;25(13):2862-2872. Epub 2016 Mar 30.

13.

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Leslie EJ, Liu H, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Standley J, Czeizel AE, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Field LL, Padilla CD, Cutiongco-de la Paz EM, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Deribew M, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Cornell RA, Murray JC, Marazita ML.

Am J Hum Genet. 2016 Apr 7;98(4):744-54. doi: 10.1016/j.ajhg.2016.02.014. Epub 2016 Mar 24.

14.

Aquaporin 5 Interacts with Fluoride and Possibly Protects against Caries.

Anjomshoaa I, Briseño-Ruiz J, Deeley K, Poletta FA, Mereb JC, Leite AL, Barreta PA, Silva TL, Dizak P, Ruff T, Patir A, Koruyucu M, Abbasoğlu Z, Casado PL, Brown A, Zaky SH, Bayram M, Küchler EC, Cooper ME, Liu K, Marazita ML, Tanboğa İ, Granjeiro JM, Seymen F, Castilla EE, Orioli IM, Sfeir C, Owyang H, Buzalaf MA, Vieira AR.

PLoS One. 2015 Dec 2;10(12):e0143068. doi: 10.1371/journal.pone.0143068. eCollection 2015.

15.

Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate.

Fonseca RF, de Carvalho FM, Poletta FA, Montaner D, Dopazo J, Mereb JC, Moreira MAM, Seuanez HN, Vieira AR, Castilla EE, Orioli IM.

Eur J Oral Sci. 2015 Oct;123(5):381-384. doi: 10.1111/eos.12212. Epub 2015 Sep 1.

PMID:
26331285
16.

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

Weber ML, Hsin HY, Kalay E, BroŽková DS, Shimizu T, Bayram M, Deeley K, Küchler EC, Forella J, Ruff TD, Trombetta VM, Sencak RC, Hummel M, Briseño-Ruiz J, Revu SK, Granjeiro JM, Antunes LS, Antunes LA, Abreu FV, Costa MC, Tannure PN, Koruyucu M, Patir A, Poletta FA, Mereb JC, Castilla EE, Orioli IM, Marazita ML, Ouyang H, Jayaraman T, Seymen F, Vieira AR.

BMC Med Genet. 2014 Jul 15;15:81. doi: 10.1186/1471-2350-15-81.

17.

Molecular analysis of holoprosencephaly in South America.

Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC Jr, Vargas FR, Moreira MÂ, Seuánez HN, Castilla EE, Orioli IM.

Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62.

18.

Genealogical data in population medical genetics: Field guidelines.

Poletta FA, Orioli IM, Castilla EE.

Genet Mol Biol. 2014 Mar;37(1 Suppl):171-85. Review.

19.

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.

Savastano CP, Bernardi P, Seuánez HN, Moreira MÂ, Orioli IM.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):300-6. doi: 10.1002/bdra.23216. Epub 2014 Feb 12. Review.

PMID:
24677696
20.

Genetic mapping of high caries experience on human chromosome 13.

Küchler EC, Deeley K, Ho B, Linkowski S, Meyer C, Noel J, Kouzbari MZ, Bezamat M, Granjeiro JM, Antunes LS, Antunes LA, de Abreu FV, Costa MC, Tannure PN, Seymen F, Koruyucu M, Patir A, Mereb JC, Poletta FA, Castilla EE, Orioli IM, Marazita ML, Vieira AR.

BMC Med Genet. 2013 Nov 5;14:116. doi: 10.1186/1471-2350-14-116.

21.

Role of TRAV locus in low caries experience.

Briseño-Ruiz J, Shimizu T, Deeley K, Dizak PM, Ruff TD, Faraco IM Jr, Poletta FA, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Koruyucu M, Mereb JC, Resick JM, Brandon CA, Letra A, Silva RM, Cooper ME, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Orioli IM, Castilla EE, Marazita ML, Vieira AR.

Hum Genet. 2013 Sep;132(9):1015-25. doi: 10.1007/s00439-013-1313-4. Epub 2013 May 9.

22.

Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries.

Shimizu T, Deeley K, Briseño-Ruiz J, Faraco IM Jr, Poletta FA, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Yildirim M, Mereb JC, Resick JM, Brandon CA, Cooper ME, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Orioli IM, Castilla EE, Marazita ML, Vieira AR.

Caries Res. 2013;47(4):273-83. doi: 10.1159/000346278. Epub 2013 Jan 30.

23.

Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome.

Costa-Lima MA, Amorim MR, Orioli IM.

Mol Biol Rep. 2013 Mar;40(3):2115-25. doi: 10.1007/s11033-012-2270-z. Epub 2012 Nov 25.

PMID:
23184006
24.

Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate.

Letra A, Fakhouri W, Fonseca RF, Menezes R, Kempa I, Prasad JL, McHenry TG, Lidral AC, Moreno L, Murray JC, Daack-Hirsch S, Marazita ML, Castilla EE, Lace B, Orioli IM, Granjeiro JM, Schutte BC, Vieira AR.

PLoS One. 2012;7(9):e45441. doi: 10.1371/journal.pone.0045441. Epub 2012 Sep 20.

25.

Enamel formation genes influence enamel microhardness before and after cariogenic challenge.

Shimizu T, Ho B, Deeley K, Briseño-Ruiz J, Faraco IM Jr, Schupack BI, Brancher JA, Pecharki GD, Küchler EC, Tannure PN, Lips A, Vieira TC, Patir A, Yildirim M, Poletta FA, Mereb JC, Resick JM, Brandon CA, Orioli IM, Castilla EE, Marazita ML, Seymen F, Costa MC, Granjeiro JM, Trevilatto PC, Vieira AR.

PLoS One. 2012;7(9):e45022. doi: 10.1371/journal.pone.0045022. Epub 2012 Sep 24.

26.

Clinical epidemiology of skeletal dysplasias in South America.

Barbosa-Buck CO, Orioli IM, da Graça Dutra M, Lopez-Camelo J, Castilla EE, Cavalcanti DP.

Am J Med Genet A. 2012 May;158A(5):1038-45. doi: 10.1002/ajmg.a.35246. Epub 2012 Mar 9.

PMID:
22407836
27.

Association of AXIN2 with non-syndromic oral clefts in multiple populations.

Letra A, Bjork B, Cooper ME, Szabo-Rogers H, Deleyiannis FW, Field LL, Czeizel AE, Ma L, Garlet GP, Poletta FA, Mereb JC, Lopez-Camelo JS, Castilla EE, Orioli IM, Wendell S, Blanton SH, Liu K, Hecht JT, Marazita ML, Vieira AR, Silva RM.

J Dent Res. 2012 May;91(5):473-8. doi: 10.1177/0022034512440578. Epub 2012 Feb 27.

28.

The effect of systematic pediatric care on neonatal mortality and hospitalizations of infants born with oral clefts.

Wehby GL, Castilla EE, Goco N, Rittler M, Cosentino V, Javois L, Kindem M, Chakraborty H, Dutra G, López-Camelo JS, Orioli IM, Murray JC.

BMC Pediatr. 2011 Dec 28;11:121. doi: 10.1186/1471-2431-11-121.

29.

Sentinel phenotype for rubella embryopathy: time-space distribution in Brazil.

Orioli IM, Camelo JS, Rittler M, Castilla EE.

Cad Saude Publica. 2011 Oct;27(10):1961-8.

30.

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Orioli IM, Amar E, Bakker MK, Bermejo-Sánchez E, Bianchi F, Canfield MA, Clementi M, Correa A, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):344-57. doi: 10.1002/ajmg.c.30323. Epub 2011 Oct 17. Review.

31.

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, Li Z, López-Camelo JS, Lowry RB, Marengo L, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Castilla EE.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):358-73. doi: 10.1002/ajmg.c.30324. Epub 2011 Oct 14. Review.

32.

Women are more susceptible to caries but individuals born with clefts are not.

Jindal A, McMeans M, Narayanan S, Rose EK, Jain S, Marazita ML, Menezes R, Letra A, Carvalho FM, Brandon CA, Resick JM, Mereb JC, Poletta FA, Lopez-Camelo JS, Castilla EE, Orioli IM, Vieira AR.

Int J Dent. 2011;2011:454532. doi: 10.1155/2011/454532. Epub 2011 Jun 8.

33.

Detection of Streptococcus mutans Genomic DNA in Human DNA Samples Extracted from Saliva and Blood.

Vieira AR, Deeley KB, Callahan NF, Noel JB, Anjomshoaa I, Carricato WM, Schulhof LP, Desensi RS, Gandhi P, Resick JM, Brandon CA, Rozhon C, Patir A, Yildirim M, Poletta FA, Mereb JC, Letra A, Menezes R, Wendell S, Lopez-Camelo JS, Castilla EE, Orioli IM, Seymen F, Weyant RJ, Crout R, McNeil DW, Modesto A, Marazita ML.

ISRN Dent. 2011;2011:543561. doi: 10.5402/2011/543561. Epub 2011 Apr 10.

34.

Effects of folic acid fortification on spina bifida prevalence in Brazil.

Orioli IM, Lima do Nascimento R, López-Camelo JS, Castilla EE.

Birth Defects Res A Clin Mol Teratol. 2011 Sep;91(9):831-5. doi: 10.1002/bdra.20830. Epub 2011 May 31.

PMID:
21630426
35.

Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography.

Ulla M, Aiello H, Cobos MP, Orioli I, García-Mónaco R, Etchegaray A, Igarzábal ML, Otaño L.

Fetal Diagn Ther. 2011;29(3):238-47. doi: 10.1159/000322212. Epub 2011 Jan 4.

36.

CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.

Letra A, Menezes R, Cooper ME, Fonseca RF, Tropp S, Govil M, Granjeiro JM, Imoehl SR, Mansilla MA, Murray JC, Castilla EE, Orioli IM, Czeizel AE, Ma L, Chiquet BT, Hecht JT, Vieira AR, Marazita ML.

Cleft Palate Craniofac J. 2011 Jul;48(4):363-70. doi: 10.1597/09-227. Epub 2010 Jul 1.

37.

Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries.

López-Camelo JS, Castilla EE, Orioli IM; INAGEMP (Instituto Nacional de Genética Médica Populacional); ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas).

Am J Med Genet A. 2010 Oct;152A(10):2444-58. doi: 10.1002/ajmg.a.33479.

PMID:
20814949
38.

Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.

Letra A, Menezes R, Govil M, Fonseca RF, McHenry T, Granjeiro JM, Castilla EE, Orioli IM, Marazita ML, Vieira AR.

Am J Med Genet A. 2010 Jul;152A(7):1701-10. doi: 10.1002/ajmg.a.33482.

39.

Novel cleft susceptibility genes in chromosome 6q.

Letra A, Menezes R, Fonseca RF, Govil M, McHenry T, Murphy MJ, Hennebold JD, Granjeiro JM, Castilla EE, Orioli IM, Martin R, Marazita ML, Bjork BC, Vieira AR.

J Dent Res. 2010 Sep;89(9):927-32. doi: 10.1177/0022034510370004. Epub 2010 May 28.

40.

Epidemiology of holoprosencephaly: Prevalence and risk factors.

Orioli IM, Castilla EE.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):13-21. doi: 10.1002/ajmg.c.30233. Review.

PMID:
20104599
41.
42.

MTHFR 677C-->T and 1298A-->C polymorphisms in children with Down syndrome and acute myeloid leukemia in Brazil.

Amorim MR, Zanrosso CW, Magalhães IQ, Pereira SC, Figueiredo A, Emerenciano M, Pinheiro VR, d'Andréa ML, Orioli IM, Koifman S, Pombo-de-Oliveira MS.

Pediatr Hematol Oncol. 2008 Dec;25(8):744-50. doi: 10.1080/08880010802435104.

PMID:
19065440
43.

Sirenomelia and cyclopia cluster in Cali, Colombia.

Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM.

Am J Med Genet A. 2008 Oct 15;146A(20):2626-36. doi: 10.1002/ajmg.a.32506.

PMID:
18798307
44.

Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only.

Vieira AR, Cooper ME, Marazita ML, Castilla EE, Orioli IM.

Braz J Med Biol Res. 2008 Aug;41(8):689-93.

45.

Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.

Fonseca RF, Costa-Lima MA, Pereira ET, Castilla EE, Orioli IM.

Mol Med Rep. 2008 Sep-Oct;1(5):753-5. doi: 10.3892/mmr_00000024.

PMID:
21479481
46.

Clusters of sirenomelia in South America.

Orioli IM, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Aiello H, Zarante I, Castilla EE.

Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):112-8. doi: 10.1002/bdra.20492.

PMID:
18712806
47.

Gastroschisis: international epidemiology and public health perspectives.

Castilla EE, Mastroiacovo P, Orioli IM.

Am J Med Genet C Semin Med Genet. 2008 Aug 15;148C(3):162-79. doi: 10.1002/ajmg.c.30181.

PMID:
18655097
48.

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.

Leoncini E, Baranello G, Orioli IM, Annerén G, Bakker M, Bianchi F, Bower C, Canfield MA, Castilla EE, Cocchi G, Correa A, De Vigan C, Doray B, Feldkamp ML, Gatt M, Irgens LM, Lowry RB, Maraschini A, Mc Donnell R, Morgan M, Mutchinick O, Poetzsch S, Riley M, Ritvanen A, Gnansia ER, Scarano G, Sipek A, Tenconi R, Mastroiacovo P.

Birth Defects Res A Clin Mol Teratol. 2008 Aug;82(8):585-91. doi: 10.1002/bdra.20479.

PMID:
18566978
49.

No association of the polyhistidine tract polymorphism of the ZIC2 gene with neural tube defects in a South American (ECLAMC) population.

Costa-Lima MA, Meneses HN, El-Jaick KB, Amorim MR, Castilla EE, Orioli IM.

Mol Med Rep. 2008 May-Jun;1(3):443-6.

PMID:
21479430
50.

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM.

Am J Med Genet A. 2008 Mar 1;146A(5):658-60. doi: 10.1002/ajmg.a.32176.

PMID:
18247426

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