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Items: 1 to 50 of 78

1.

CD117hi expression identifies a human fetal Hematopoietic Stem Cell population with high proliferation and self-renewal potential.

Maillard L, Sanfilippo S, Domenech C, Kasmi N, Petit L, Jacques S, Delezoide AL, Guimiot F, Eladak S, Moison D, Nicolas N, Rouiller-Fabre V, Pozzi-Godin S, Mennesson B, Brival ML, Letourneur F, Jaffredo T, Chomienne C, Souyri M.

Haematologica. 2019 Jun 27. pii: haematol.2018.207811. doi: 10.3324/haematol.2018.207811. [Epub ahead of print]

2.

Study of Human T21 Placenta Suggests a Potential Role of Mesenchymal Spondin-2 in Placental Vascular Development.

Gerbaud P, Murthi P, Guibourdenche J, Guimiot F, Sarazin B, Evain-Brion D, Badet J, Pidoux G.

Endocrinology. 2019 Mar 1;160(3):684-698. doi: 10.1210/en.2018-00826.

PMID:
30715257
3.

TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery.

Tonni G, Grisolia G, Zampriolo P, Prefumo F, Fichera A, Bonasoni P, Lefebvre M, Khung-Savatovsky S, Guimiot F, Rosenblatt J, Araujo Júnior E.

Fetal Pediatr Pathol. 2018 Dec;37(6):433-447. doi: 10.1080/15513815.2018.1526240. Epub 2019 Jan 12.

PMID:
30636554
4.

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J.

Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.

PMID:
30614526
5.

Studies in an Early Development Window Unveils a Severe HSC Defect in both Murine and Human Fanconi Anemia.

Domenech C, Maillard L, Rousseau A, Guidez F, Petit L, Pla M, Clay D, Guimiot F, Sanfilippo S, Jacques S, de la Grange P, Robil N, Soulier J, Souyri M.

Stem Cell Reports. 2018 Nov 13;11(5):1075-1091. doi: 10.1016/j.stemcr.2018.10.001. Epub 2018 Oct 25.

6.

Three-Dimensional Modelization of the Female Human Inferior Hypogastric Plexus: Implications for Nerve-Sparing Radical Hysterectomy.

Balaya V, Guimiot F, Uhl JF, Ngo C, Delomenie M, Bonsang-Kitzis H, Gosset M, Mimouni M, Bats AS, Delmas V, Douard R, Lécuru F.

Gynecol Obstet Invest. 2019;84(2):196-203. doi: 10.1159/000494255. Epub 2018 Oct 31.

PMID:
30380543
7.

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S.

Am J Med Genet A. 2018 Nov;176(11):2325-2330. doi: 10.1002/ajmg.a.40505. Epub 2018 Oct 17.

PMID:
30328679
8.

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.

Letard P, Schepers D, Albuisson J, Bruneval P, Spaggiari E, Van de Beek G, Khung-Savatovsky S, Belarbi N, Capri Y, Delezoide AL, Loeys B, Guimiot F.

Mol Syndromol. 2018 Jul;9(4):190-196. doi: 10.1159/000489838. Epub 2018 Jun 8.

9.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Lévy J, Haye D, Marziliano N, Casu G, Guimiot F, Dupont C, Teissier N, Benzacken B, Gressens P, Pipiras E, Verloes A, Tabet AC.

Clin Genet. 2018 Jun;93(6):1141-1147. doi: 10.1111/cge.13234. Epub 2018 Mar 15.

PMID:
29508392
10.

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications.

Mottet N, Chaussy Y, Auber F, Guimiot F, Arbez-Gindre F, Riethmuller D, Cretolle C, Benachi A.

J Ultrasound Med. 2018 Jul;37(7):1807-1820. doi: 10.1002/jum.14522. Epub 2018 Jan 27. Review.

PMID:
29377253
11.

Placental Findings and Effect of Prophylactic Hydrocortisone in Extremely Preterm Infants.

Héneau A, Guimiot F, Mohamed D, Rideau Batista Novais A, Alberti C, Baud O; PREMILOC Trial study group.

Pediatrics. 2018 Feb;141(2). pii: e20171788. doi: 10.1542/peds.2017-1788. Epub 2018 Jan 18.

12.

Molecular and Functional Characterization of Lymphoid Progenitor Subsets Reveals a Bipartite Architecture of Human Lymphopoiesis.

Alhaj Hussen K, Vu Manh TP, Guimiot F, Nelson E, Chabaane E, Delord M, Barbier M, Berthault C, Dulphy N, Alberdi AJ, Burlen-Defranoux O, Socié G, Bories JC, Larghero J, Vanneaux V, Verhoeyen E, Wirth T, Dalod M, Gluckman JC, Cumano A, Canque B.

Immunity. 2017 Oct 17;47(4):680-696.e8. doi: 10.1016/j.immuni.2017.09.009.

13.

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC.

Am J Med Genet A. 2017 Aug;173(8):2081-2087. doi: 10.1002/ajmg.a.38302. Epub 2017 Jun 1.

PMID:
28573701
14.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A.

Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4.

15.

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ.

Elife. 2017 Jan 16;6. pii: e20898. doi: 10.7554/eLife.20898.

16.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Tessier A, Sarreau M, Pelluard F, André G, Blesson S, Bucourt M, Dechelotte P, Faivre L, Frébourg T, Goldenberg A, Goua V, Jeanne-Pasquier C, Guimiot F, Laquerriere A, Laurent N, Lefebvre M, Loget P, Maréchaud M, Mechler C, Perez MJ, Sabourin JC, Verloes A, Patrier S, Guerrot AM.

Prenat Diagn. 2016 Dec;36(13):1270-1275. doi: 10.1002/pd.4971. Epub 2016 Dec 9. Review.

PMID:
27859469
17.

Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.

Mottet N, Martinovic J, Baeza C, Guimiot F, Bault JP, Aubry MC, Riethmuller D, Zerah M, Cretolle C, Benachi A.

Fetal Diagn Ther. 2017;42(2):137-143. doi: 10.1159/000451080. Epub 2016 Oct 29.

PMID:
27794580
18.

Diffusion-weighted magnetic resonance imaging of the fetal brain in intrauterine growth restriction.

Arthurs OJ, Rega A, Guimiot F, Belarbi N, Rosenblatt J, Biran V, Elmaleh M, Sebag G, Alison M.

Ultrasound Obstet Gynecol. 2017 Jul;50(1):79-87. doi: 10.1002/uog.17318.

19.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.

Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8.

20.

Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction.

Spaggiari E, Faure G, Dreux S, Czerkiewicz I, Stirnemann JJ, Guimiot F, Heidet L, Favre R, Salomon LJ, Oury JF, Ville Y, Muller F.

Ultrasound Obstet Gynecol. 2017 May;49(5):617-622. doi: 10.1002/uog.15968. Epub 2017 Mar 29.

21.

Safety study of Ciprofloxacin in newborn mice.

Bourgeois T, Delezoide AL, Zhao W, Guimiot F, Adle-Biassette H, Durand E, Ringot M, Gallego J, Storme T, Le Guellec C, Kassaï B, Turner MA, Jacqz-Aigrain E, Matrot B.

Regul Toxicol Pharmacol. 2016 Feb;74:161-9. doi: 10.1016/j.yrtph.2015.11.002. Epub 2015 Nov 26.

22.

Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria.

Cipriani S, Journiac N, Nardelli J, Verney C, Delezoide AL, Guimiot F, Gressens P, Adle-Biassette H.

Cereb Cortex. 2017 Jan 1;27(1):358-372. doi: 10.1093/cercor/bhv223.

23.

Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.

Cipriani S, Nardelli J, Verney C, Delezoide AL, Guimiot F, Gressens P, Adle-Biassette H.

Cereb Cortex. 2016 Mar;26(3):1255-71. doi: 10.1093/cercor/bhv079. Epub 2015 Apr 16.

PMID:
25882041
24.

Fetal urine biochemistry at 13-23 weeks of gestation in lower urinary tract obstruction: criteria for in-utero treatment.

Abdennadher W, Chalouhi G, Dreux S, Rosenblatt J, Favre R, Guimiot F, Salomon LJ, Oury JF, Ville Y, Muller F.

Ultrasound Obstet Gynecol. 2015 Sep;46(3):306-11. doi: 10.1002/uog.14734. Epub 2015 Aug 10.

25.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

26.

Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites.

Dreux S, Salomon LJ, Rosenblatt J, Favre R, Houfflin-Debarge V, Broussin B, Guimiot F, Fenaux H, Delezoide AL, Muller F.

Prenat Diagn. 2015 Mar;35(3):214-20. doi: 10.1002/pd.4522. Epub 2014 Nov 26.

PMID:
25346315
27.

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Dupont C, Bucourt M, Guimiot F, Kraoua L, Smiljkovski D, Le Tessier D, Lebugle C, Gerard B, Spaggiari E, Bourdoncle P, Tabet AC, Benzacken B, Dupont JM.

Mol Cytogenet. 2014 Sep 30;7(1):59. doi: 10.1186/s13039-014-0059-6. eCollection 2014.

28.

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.

Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69.

29.

Cloaca in discordant monoamniotic twins: prenatal diagnosis and consequence for fetal lung development.

Chitrit Y, Vuillard E, Khung S, Belarbi N, Guimiot F, Muller F, Ghoneimi AE, Oury JF.

AJP Rep. 2014 May;4(1):33-6. doi: 10.1055/s-0034-1370351. Epub 2014 Mar 3.

30.

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F.

Am J Med Genet A. 2014 Oct;164A(10):2504-9. doi: 10.1002/ajmg.a.36658. Epub 2014 Jun 26.

PMID:
24975584
31.

Somatostatin receptors type 2 and 5 expression and localization during human pituitary development.

Peineau S, Guimiot F, Csaba Z, Jacquier S, Fafouri A, Schwendimann L, de Roux N, Schulz S, Gressens P, Auvin S, Dournaud P.

Endocrinology. 2014 Jan;155(1):33-9. doi: 10.1210/en.2013-1683. Epub 2013 Dec 20.

PMID:
24189142
32.

Specific biochemical amniotic fluid pattern of fetal isolated esophageal atresia.

Muller C, Czerkiewicz I, Guimiot F, Dreux S, Salomon LJ, Khen-Dunlop N, Bonnard A, Schmitz T, Oury JF, Muller F.

Pediatr Res. 2013 Nov;74(5):601-5. doi: 10.1038/pr.2013.131. Epub 2013 Sep 11.

PMID:
23942557
33.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.

Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5. No abstract available.

PMID:
23918474
34.

Fetal serum α-1 microglobulin for renal function assessment: comparison with β2-microglobulin and cystatin C.

Nguyen C, Dreux S, Heidet L, Czerkiewicz I, Salomon LJ, Guimiot F, Schmitz T, Tsatsaris V, Boulot P, Rousseau T, Muller F.

Prenat Diagn. 2013 Aug;33(8):775-81. doi: 10.1002/pd.4128. Epub 2013 May 14.

PMID:
23592560
35.

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL.

Eur J Med Genet. 2013 Jun;56(6):297-300. doi: 10.1016/j.ejmg.2013.03.003. Epub 2013 Mar 21.

PMID:
23523603
36.

Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay.

Spaggiari E, Ruas M, Dreux S, Valat AS, Czerkiewicz I, Guimiot F, Schmitz T, Delezoide AL, Muller F.

Am J Obstet Gynecol. 2013 Apr;208(4):303.e1-7. doi: 10.1016/j.ajog.2013.01.010. Epub 2013 Jan 10.

PMID:
23313312
37.

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.

Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide AL, Azancot A.

Am J Med Genet A. 2013 Jan;161A(1):208-13. doi: 10.1002/ajmg.a.35690. Epub 2012 Dec 14.

PMID:
23239632
38.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.

Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.

39.

Application of a new molecular technique for the genetic evaluation of products of conception.

Grati FR, Gomes DM, Ganesamoorthy D, Marcato L, De Toffol S, Blondeel E, Malvestiti F, Loeuillet L, Ruggeri AM, Wainer R, Maggi F, Aboura A, Dupont C, Tabet AC, Guimiot F, Slater HR, Simoni G, Vialard F.

Prenat Diagn. 2013 Jan;33(1):32-41. doi: 10.1002/pd.4004. Epub 2012 Nov 20.

PMID:
23168908
40.

Fetal obstructive uropathy complicated by urinary ascites: outcome and prognostic value of fetal serum β-2-microglobulin.

Spaggiari E, Dreux S, Czerkiewicz I, Favre R, Schmitz T, Guimiot F, Laurichesse Delmas H, Verspyck E, Oury JF, Ville Y, Muller F.

Ultrasound Obstet Gynecol. 2013 Feb;41(2):185-9. doi: 10.1002/uog.12328.

41.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T.

J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28.

PMID:
23024289
42.

Negative fetal FSH/LH regulation in late pregnancy is associated with declined kisspeptin/KISS1R expression in the tuberal hypothalamus.

Guimiot F, Chevrier L, Dreux S, Chevenne D, Caraty A, Delezoide AL, de Roux N.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2221-9. doi: 10.1210/jc.2012-2078. Epub 2012 Sep 26.

PMID:
23015653
43.

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.

Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17.

PMID:
22903608
44.

Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.

Spaggiari E, Vuillard E, Khung-Savatovsky S, Muller F, Oury JF, Delezoide AL, Guimiot F.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):341-2. doi: 10.1002/uog.12285. No abstract available.

45.

Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.

Spaggiari E, Heidet L, Grange G, Guimiot F, Dreux S, Delezoide AL; Renin-Angiotensin System Blockers Study Group, Muller F.

Prenat Diagn. 2012 Nov;32(11):1071-6. doi: 10.1002/pd.3960. Epub 2012 Aug 18.

PMID:
22903358
46.

Prenatal phenotype of congenital hyperparathyroidism.

Spaggiari E, Bucau M, Capri Y, Belarbi N, Bekmezian A, Briffa JM, Delezoide AL, Guimiot F.

Prenat Diagn. 2012 Sep;32(9):906-8. doi: 10.1002/pd.3912. Epub 2012 Jun 5. No abstract available.

PMID:
22674768
47.

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):498-501. doi: 10.1016/j.ejmg.2012.04.006. Epub 2012 May 5.

PMID:
22569119
48.

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

Devisme L, Bouchet C, Gonzalès M, Alanio E, Bazin A, Bessières B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Delezoide AL, Guimiot F, Joubert M, Laurent N, Laquerrière A, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard F, Perez MJ, Rouleau C, Triau S, Attié-Bitach T, Vuillaumier-Barrot S, Seta N, Encha-Razavi F.

Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9.

PMID:
22323514
49.

Ultrasound detection of hyaloid artery in the third trimester of pregnancy: a pathological finding.

Spaggiari E, Vuillard E, Baumann C, Dupont C, Belarbi N, Oury JF, Delezoide AL, Guimiot F.

Ultrasound Obstet Gynecol. 2012 Apr;39(4):478-9. doi: 10.1002/uog.10123. No abstract available.

50.

GnRH receptor mutations in isolated gonadotropic deficiency.

Chevrier L, Guimiot F, de Roux N.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):21-8. doi: 10.1016/j.mce.2011.04.018. Epub 2011 Apr 30. Review.

PMID:
21645587

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