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Items: 1 to 50 of 213

1.

[Genetics of hearing disorders in children].

Paoloni-Giacobino A, Ranza E, Abramowicz M, Senn P, Cao Van H.

Rev Med Suisse. 2019 Oct 2;15(665):1740-1745. French.

PMID:
31580017
2.

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I.

Eur J Hum Genet. 2019 Sep 10. doi: 10.1038/s41431-019-0491-5. [Epub ahead of print]

PMID:
31506600
3.

Analysis of Hymenoptera venom allergy in own material. Clinical evaluation of reactions following stings, in patients qualified for venom immunotherapy.

Chciałowski A, Abramowicz M, Kruszewski J.

Postepy Dermatol Alergol. 2019 Jun;36(3):302-307. doi: 10.5114/ada.2018.75607. Epub 2018 May 22.

4.

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.

Tourville A, Michiels C, Condroyer C, Meunier A, Cordonnier M, Sahel JA, Audo I, Abramowicz M, Zeitz C.

Ophthalmic Genet. 2019 Apr;40(2):182-184. doi: 10.1080/13816810.2019.1605389. No abstract available.

PMID:
31063016
5.

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I.

Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Erratum in: Eur J Hum Genet. 2019 Sep 10;:.

PMID:
30914828
6.

Evaluation of the placebo effect in the trials of allergen immunotherapy effectiveness: meta-analysis of randomized and placebo-controlled trials.

Abramowicz M, Kruszewski J, Chciałowski A.

Postepy Dermatol Alergol. 2018 Dec;35(6):620-625. doi: 10.5114/ada.2018.77614. Epub 2018 Nov 13.

7.

[Intellectual disability: contribution of genetic studies to the etiological diagnosis].

Jouan-Flahault C, Kosel M, Abramowicz M, Paoloni-Giacobino A.

Rev Med Suisse. 2018 Sep 19;14(619):1666-1669. French.

PMID:
30230775
8.

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

Remiche G, Lukacs Z, Kasper DC, Abramowicz M, Pandolfo M.

J Neuromuscul Dis. 2018;5(4):471-480. doi: 10.3233/JND-180336.

PMID:
30175981
9.

Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.

Duerinckx S, Meuwissen M, Perazzolo C, Desmyter L, Pirson I, Abramowicz M.

Mol Genet Genomic Med. 2018 Apr 24. doi: 10.1002/mgg3.400. [Epub ahead of print]

10.

Reply to Hernandez et al. - GWAS of acute renal graft rejection.

Massart A, Ghisdal L, Viklicky O, Naesens M, Abramowicz D, Abramowicz M.

Am J Transplant. 2018 Aug;18(8):2098-2099. doi: 10.1111/ajt.14877. Epub 2018 May 12. No abstract available.

11.

Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.

Amininejad L, Charloteaux B, Theatre E, Liefferinckx C, Dmitrieva J, Hayard P, Muls V, Maisin JM, Schapira M, Ghislain JM, Closset P, Talib M, Abramowicz M, Momozawa Y, Deffontaine V, Crins F, Mni M, Karim L, Cambisano N, Ornemese S, Zucchi A, Minsart C, Deviere J, Hugot JP, De Vos M, Louis E, Vermeire S, Van Gossum A, Coppieters W, Twizere JC, Georges M, Franchimont D; International IBD Genetics Consortium.

Gastroenterology. 2018 Jun;154(8):2165-2177. doi: 10.1053/j.gastro.2018.02.028. Epub 2018 Mar 6.

PMID:
29501442
12.

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.

Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Erratum in: Hum Mutat. 2019 Jan;40(1):127.

PMID:
29243349
13.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN.

Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9.

14.

The genetics of congenitally small brains.

Duerinckx S, Abramowicz M.

Semin Cell Dev Biol. 2018 Apr;76:76-85. doi: 10.1016/j.semcdb.2017.09.015. Epub 2017 Sep 12. Review.

PMID:
28912110
15.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Reggiani C, Coppens S, Sekhara T, Dimov I, Pichon B, Lufin N, Addor MC, Belligni EF, Digilio MC, Faletra F, Ferrero GB, Gerard M, Isidor B, Joss S, Niel-Bütschi F, Perrone MD, Petit F, Renieri A, Romana S, Topa A, Vermeesch JR, Lenaerts T, Casimir G, Abramowicz M, Bontempi G, Vilain C, Deconinck N, Smits G.

Genome Med. 2017 Jul 19;9(1):67. doi: 10.1186/s13073-017-0452-y.

16.

Long-term lithium treatment in bipolar disorder: effects on glomerular filtration rate and other metabolic parameters.

Tondo L, Abramowicz M, Alda M, Bauer M, Bocchetta A, Bolzani L, Calkin CV, Chillotti C, Hidalgo-Mazzei D, Manchia M, Müller-Oerlinghausen B, Murru A, Perugi G, Pinna M, Quaranta G, Reginaldi D, Reif A, Ritter P Jr, Rybakowski JK, Saiger D, Sani G, Selle V, Stamm T, Vázquez GH, Veeh J, Vieta E, Baldessarini RJ.

Int J Bipolar Disord. 2017 Dec;5(1):27. doi: 10.1186/s40345-017-0096-2. Epub 2017 Aug 1.

17.

Severe congenital microcephaly with AP4M1 mutation, a case report.

Duerinckx S, Verhelst H, Perazzolo C, David P, Desmyter L, Pirson I, Abramowicz M.

BMC Med Genet. 2017 May 2;18(1):48. doi: 10.1186/s12881-017-0412-9.

18.

Operational tolerance in kidney transplantation and associated biomarkers.

Massart A, Ghisdal L, Abramowicz M, Abramowicz D.

Clin Exp Immunol. 2017 Aug;189(2):138-157. doi: 10.1111/cei.12981. Epub 2017 May 29. Review.

19.

Microcephaly risk with RUSC2.

Abramowicz M.

Dev Med Child Neurol. 2016 Dec;58(12):1211-1212. doi: 10.1111/dmcn.13293. Epub 2016 Sep 28. No abstract available.

20.

Kidney, thyroid and other organ functions after 40 years or more of lithium therapy: a case series of five patients.

Permoda-Osip A, Abramowicz M, Kraszewska A, Suwalska A, Chlopocka-Wozniak M, Rybakowski JK.

Ther Adv Psychopharmacol. 2016 Aug;6(4):277-82. doi: 10.1177/2045125316643299. Epub 2016 Apr 17. Review.

21.

Genome-Wide Association Study of Acute Renal Graft Rejection.

Ghisdal L, Baron C, Lebranchu Y, Viklický O, Konarikova A, Naesens M, Kuypers D, Dinic M, Alamartine E, Touchard G, Antoine T, Essig M, Rerolle JP, Merville P, Taupin JL, Le Meur Y, Grall-Jezequel A, Glowacki F, Noël C, Legendre C, Anglicheau D, Broeders N, Coppieters W, Docampo E, Georges M, Ajarchouh Z, Massart A, Racapé J, Abramowicz D, Abramowicz M.

Am J Transplant. 2017 Jan;17(1):201-209. doi: 10.1111/ajt.13912. Epub 2016 Jul 22.

22.

What Do Children with Chronic Diseases and Their Parents Think About Pediatricians? A Qualitative Interview Study.

Konstantynowicz J, Marcinowicz L, Abramowicz P, Abramowicz M.

Matern Child Health J. 2016 Aug;20(8):1745-52. doi: 10.1007/s10995-016-1978-0.

23.

Renal sonography in bipolar patients on long-term lithium treatment.

Jończyk-Potoczna K, Abramowicz M, Chłopocka-Woźniak M, Strzelczuk-Judka L, Michalak M, Czekalski S Prof, Rybakowski JK Prof.

J Clin Ultrasound. 2016 Jul 8;44(6):354-9. doi: 10.1002/jcu.22336. Epub 2016 Feb 18.

PMID:
26890616
24.

The DESCARTES-Nantes survey of kidney transplant recipients displaying clinical operational tolerance identifies 35 new tolerant patients and 34 almost tolerant patients.

Massart A, Pallier A, Pascual J, Viklicky O, Budde K, Spasovski G, Klinger M, Sever MS, Sørensen SS, Hadaya K, Oberbauer R, Dudley C, De Fijter JW, Yussim A, Hazzan M, Wekerle T, Berglund D, De Biase C, Pérez-Sáez MJ, Mühlfeld A, Orlando G, Clemente K, Lai Q, Pisani F, Kandus A, Baas M, Bemelman F, Ponikvar JB, Mazouz H, Stratta P, Subra JF, Villemain F, Hoitsma A, Braun L, Cantarell MC, Colak H, Courtney A, Frasca GM, Howse M, Naesens M, Reischig T, Serón D, Seyahi N, Tugmen C, Alonso Hernandez A, Beňa L, Biancone L, Cuna V, Díaz-Corte C, Dufay A, Gaasbeek A, Garnier A, Gatault P, Gentil Govantes MA, Glowacki F, Gross O, Hurault de Ligny B, Huynh-Do U, Janbon B, Jiménez Del Cerro LA, Keller F, La Manna G, Lauzurica R, Le Monies De Sagazan H, Thaiss F, Legendre C, Martin S, Moal MC, Noël C, Pillebout E, Piredda GB, Puga AR, Sulowicz W, Tuglular S, Prokopova M, Chesneau M, Le Moine A, Guérif P, Soulillou JP, Abramowicz M, Giral M, Racapé J, Maggiore U, Brouard S, Abramowicz D.

Nephrol Dial Transplant. 2016 Jun;31(6):1002-13. doi: 10.1093/ndt/gfv437. Epub 2016 Jan 12.

PMID:
26763669
25.

Refining the phenotype associated with CASC5 mutation.

Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L.

Neurogenetics. 2016 Jan;17(1):71-8. doi: 10.1007/s10048-015-0468-7. Epub 2015 Dec 1.

PMID:
26626498
26.

DIDA: A curated and annotated digenic diseases database.

Gazzo AM, Daneels D, Cilia E, Bonduelle M, Abramowicz M, Van Dooren S, Smits G, Lenaerts T.

Nucleic Acids Res. 2016 Jan 4;44(D1):D900-7. doi: 10.1093/nar/gkv1068. Epub 2015 Oct 19.

27.

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Fumagalli D, Gacquer D, Rothé F, Lefort A, Libert F, Brown D, Kheddoumi N, Shlien A, Konopka T, Salgado R, Larsimont D, Polyak K, Willard-Gallo K, Desmedt C, Piccart M, Abramowicz M, Campbell PJ, Sotiriou C, Detours V.

Cell Rep. 2015 Oct 13;13(2):277-89. doi: 10.1016/j.celrep.2015.09.032. Epub 2015 Oct 1.

28.

Global implementation of genomic medicine: We are not alone.

Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS.

Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Review.

29.

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

Remiche G, Kadhim H, Abramowicz M, Mavroudakis N, Monnier N, Lunardi J.

Neuromuscul Disord. 2015 May;25(5):397-402. doi: 10.1016/j.nmd.2015.01.016. Epub 2015 Feb 9.

PMID:
25747005
30.

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

Dupuis N, Fafouri A, Bayot A, Kumar M, Lecharpentier T, Ball G, Edwards D, Bernard V, Dournaud P, Drunat S, Vermelle-Andrzejewski M, Vilain C, Abramowicz M, Désir J, Bonaventure J, Gareil N, Boncompain G, Csaba Z, Perez F, Passemard S, Gressens P, El Ghouzzi V.

Hum Mol Genet. 2015 May 15;24(10):2771-83. doi: 10.1093/hmg/ddv038. Epub 2015 Feb 4.

PMID:
25652408
31.

A cross-sectional study of thyroid function in 66 patients with bipolar disorder receiving lithium for 10-44 years.

Kraszewska A, Chlopocka-Wozniak M, Abramowicz M, Sowinski J, Rybakowski JK.

Bipolar Disord. 2015 Jun;17(4):375-80. doi: 10.1111/bdi.12275. Epub 2014 Oct 31.

PMID:
25359625
32.

How hospitalized children and parents perceive nurses and hospital amenities: A qualitative descriptive study in Poland.

Marcinowicz L, Abramowicz P, Zarzycka D, Abramowicz M, Konstantynowicz J.

J Child Health Care. 2016 Mar;20(1):120-8. doi: 10.1177/1367493514551313. Epub 2014 Oct 21.

PMID:
25336237
33.

[The effect of lithium on thyroid function in patients with bipolar disorder].

Kraszewska A, Abramowicz M, Chłopocka-Woźniak M, Sowiński J, Rybakowski J.

Psychiatr Pol. 2014 May-Jun;48(3):417-28. Review. Polish.

PMID:
25204089
34.

UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort.

Dinic M, Ghisdal L, Racapé J, Thibaudin L, Gatault P, Essig M, Le Meur Y, Noël C, Touchard G, Merville P, Ajarchouh Z, Mariat C, Abramowicz M, Abramowicz D, Alamartine E.

BMC Nephrol. 2014 Aug 28;15:138. doi: 10.1186/1471-2369-15-138.

35.

A familial heterozygous null mutation of MET in autism spectrum disorder.

Lambert N, Wermenbol V, Pichon B, Acosta S, van den Ameele J, Perazzolo C, Messina D, Musumeci MF, Dessars B, De Leener A, Abramowicz M, Vilain C.

Autism Res. 2014 Oct;7(5):617-22. doi: 10.1002/aur.1396. Epub 2014 Jun 6.

PMID:
24909855
36.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M.

Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.

PMID:
24719489
37.

Mass of a black hole firewall.

Abramowicz MA, Kluźniak W, Lasota JP.

Phys Rev Lett. 2014 Mar 7;112(9):091301. Epub 2014 Mar 3.

PMID:
24655237
38.

Novel markers of kidney injury in bipolar patients on long-term lithium treatment.

Rybakowski JK, Abramowicz M, Chłopocka-Wozniak M, Czekalski S.

Hum Psychopharmacol. 2013 Nov;28(6):615-8. doi: 10.1002/hup.2362.

PMID:
24519695
39.

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M.

PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31.

40.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination.

Remiche G, Abramowicz M, Mavroudakis N.

Acta Neurol Belg. 2013 Dec;113(4):519-22. doi: 10.1007/s13760-013-0255-x. Epub 2013 Oct 22.

PMID:
24146347
41.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M.

Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10.

PMID:
24038909
42.

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T.

Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2.

43.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.

J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.

44.

Microsatellite polymorphism in the heme oxygenase-1 gene promoter is not associated with alcoholic liver disease severity.

Lemaire A, Trépo E, Ouziel R, Gustot T, Moreno C, Degré D, Minsart C, Quertinmont E, Vercruysse V, De Wilde V, le Moine O, Devière J, Abramowicz M, le Moine A, Lemmers A.

Hepatology. 2014 Jan;59(1):352-3. doi: 10.1002/hep.26534. Epub 2013 Aug 5. No abstract available.

PMID:
23728734
45.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N.

Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7.

PMID:
23401279
46.

[Long-term mood assessment in bipolar affective disorder].

Suwalska A, Abramowicz M, Rybakowski J.

Psychiatr Pol. 2012 Sep-Oct;46(5):771-80. Polish.

PMID:
23394017
47.

Foundations of Black Hole Accretion Disk Theory.

Abramowicz MA, Fragile PC.

Living Rev Relativ. 2013;16(1):1. doi: 10.12942/lrr-2013-1. Epub 2013 Jan 14. Review.

48.

The association of glycogen synthase kinase-3beta (GSK-3β) gene polymorphism with kidney function in long-term lithium-treated bipolar patients.

Rybakowski JK, Abramowicz M, Szczepankiewicz A, Michalak M, Hauser J, Czekalski S.

Int J Bipolar Disord. 2013 Jun 20;1:8. doi: 10.1186/2194-7511-1-8. eCollection 2013.

49.

[The effect of long-term lithium treatment on kidney function].

Rybakowski J, Drogowska J, Abramowicz M, Chłopocka-Woźniak M, Czekalski S.

Psychiatr Pol. 2012 Jul-Aug;46(4):627-36. Review. Polish.

PMID:
23214164
50.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G.

Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.

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