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Items: 1 to 50 of 76

1.

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C.

Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11.

2.

Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC study.

Kälsch AI, Scharnagl H, Kleber ME, Windpassinger C, Sattler W, Leipe J, Krämer BK, März W, Malle E.

Clin Res Cardiol. 2019 Jul 1. doi: 10.1007/s00392-019-01516-9. [Epub ahead of print]

PMID:
31263995
3.

Histone deacetylase inhibitors vorinostat and panobinostat induce G1 cell cycle arrest and apoptosis in multidrug resistant sarcoma cell lines.

Bernhart E, Stuendl N, Kaltenegger H, Windpassinger C, Donohue N, Leithner A, Lohberger B.

Oncotarget. 2017 Aug 24;8(44):77254-77267. doi: 10.18632/oncotarget.20460. eCollection 2017 Sep 29.

4.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P.

Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.

5.

How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports.

Al Kaissi A, Windpassinger C, Chehida FB, Ghachem MB, Nassib NM, Kenis V, Melchenko E, Morenko E, Ryabykh S, Hofstaetter JG, Grill F, Ganger R, Kircher SG.

Medicine (Baltimore). 2017 Sep;96(35):e7863. doi: 10.1097/MD.0000000000007863. Erratum in: Medicine (Baltimore). 2017 Sep 15;96(37):e8141. Medicine (Baltimore). 2017 Oct 20;96(42):e8385.

6.

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA.

Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19.

7.

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z.

J Genet. 2017 Jun;96(2):383-387.

8.

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.

Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11.

PMID:
28397838
9.

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P.

J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. Review.

10.

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.

Khan MA, Khan S, Windpassinger C, Badar M, Nawaz Z, Mohammad RM.

Ann Hum Genet. 2016 Nov;80(6):342-368. doi: 10.1111/ahg.12176. Review.

11.

Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL.

Bengesser SA, Reininghaus EZ, Lackner N, Birner A, Fellendorf FT, Platzer M, Kainzbauer N, Tropper B, Hörmanseder C, Queissner R, Kapfhammer HP, Wallner-Liebmann SJ, Fuchs R, Petek E, Windpassinger C, Schnalzenberger M, Reininghaus B, Evert B, Waha A.

World J Biol Psychiatry. 2018;19(sup2):S21-S29. doi: 10.1080/15622975.2016.1231421. Epub 2016 Oct 14.

PMID:
27739341
12.

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR.

Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1.

13.
14.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

Heidari A, Tongsook C, Najafipour R, Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K, Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M, Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB.

Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi: 10.1093/hmg/ddv286. Epub 2015 Jul 23.

15.

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.

Kurath-Koller S, Resch B, Kraschl R, Windpassinger C, Eber E.

AJP Rep. 2015 Apr;5(1):e53-9. doi: 10.1055/s-0035-1545668. Epub 2015 Mar 2.

16.

Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line.

Li C, Rezania S, Kammerer S, Sokolowski A, Devaney T, Gorischek A, Jahn S, Hackl H, Groschner K, Windpassinger C, Malle E, Bauernhofer T, Schreibmayer W.

Sci Rep. 2015 Feb 10;5:8364. doi: 10.1038/srep08364.

17.

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, Gorkiewicz G, Zenz W, Windpassinger C, Grimbacher B, Urban C, Boztug K.

J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22. No abstract available.

18.

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Schulz E, Klampfl P, Holzapfel S, Janecke AR, Ulz P, Renner W, Kashofer K, Nojima S, Leitner A, Zebisch A, Wölfler A, Hofer S, Gerger A, Lax S, Beham-Schmid C, Steinke V, Heitzer E, Geigl JB, Windpassinger C, Hoefler G, Speicher MR, Boland CR, Kumanogoh A, Sill H.

Nat Commun. 2014 Oct 13;5:5191. doi: 10.1038/ncomms6191.

19.

A novel single base pair duplication in WDR62 causes primary microcephaly.

Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A.

BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4.

20.

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.

Khan MA, Rupp V, Khan MA, Khan MP, Ansar M, Windpassinger C.

J Genet. 2014 Aug;93(2):527-30. No abstract available.

21.

Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamily.

Rossmann C, Windpassinger C, Brunner D, Kovacevic A, Schweighofer N, Malli R, Schuligoi R, Prokesch A, Kluve-Beckerman B, Graier WF, Kratky D, Sattler W, Malle E.

Biochem Biophys Res Commun. 2014 Aug 8;450(4):1643-9. doi: 10.1016/j.bbrc.2014.07.054. Epub 2014 Jul 17.

22.

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C.

Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20.

PMID:
24951542
23.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB.

Neurogenetics. 2014 May;15(2):117-27. doi: 10.1007/s10048-014-0394-0. Epub 2014 Mar 19.

PMID:
24643514
24.

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC.

Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13.

25.

Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathways.

Bernhart E, Damm S, Heffeter P, Wintersperger A, Asslaber M, Frank S, Hammer A, Strohmaier H, DeVaney T, Mrfka M, Eder H, Windpassinger C, Ireson CR, Mischel PS, Berger W, Sattler W.

Neuro Oncol. 2014 Jul;16(7):933-45.

26.

General movements in genetic disorders: A first look into Cornelia de Lange syndrome.

Marschik PB, Soloveichick M, Windpassinger C, Einspieler C.

Dev Neurorehabil. 2015;18(4):280-2. doi: 10.3109/17518423.2013.859180. Epub 2013 Dec 4.

27.

Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

Marschik PB, Bartl-Pokorny KD, Tager-Flusberg H, Kaufmann WE, Pokorny F, Grossmann T, Windpassinger C, Petek E, Einspieler C.

Dev Neurorehabil. 2014 Feb;17(1):34-8. doi: 10.3109/17518423.2013.837537. Epub 2013 Oct 2.

28.

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW.

Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7.

PMID:
23393157
29.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H.

Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.

30.

Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.

Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):490-502. doi: 10.1161/CIRCGENETICS.111.962332. Epub 2012 Aug 25.

PMID:
22923418
31.

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB.

Am J Hum Genet. 2012 May 4;90(5):856-63. doi: 10.1016/j.ajhg.2012.03.023. Epub 2012 Apr 26.

32.

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27.

PMID:
22213695
33.

Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).

Poparic I, Schreibmayer W, Schoser B, Desoye G, Gorischek A, Miedl H, Hochmeister S, Binder J, Quasthoff S, Wagner K, Windpassinger C, Malle E.

PLoS One. 2011;6(10):e26524. doi: 10.1371/journal.pone.0026524. Epub 2011 Oct 28.

34.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.

Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M, Schabhüttl M, Arslan-Kirchner M, Javaher-Haghighi P, Plecko B, Senderek J, Rauscher C, Löscher WN, Pieber TR, Janecke AR, Auer-Grumbach M.

J Neurol. 2012 Mar;259(3):515-23. doi: 10.1007/s00415-011-6213-8. Epub 2011 Sep 4.

35.

Germline mutations in BAP1 predispose to melanocytic tumors.

Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR.

Nat Genet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910.

36.

Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome.

Beitzke M, Enzinger C, Windpassinger C, Pfeifer D, Fazekas F, Woellner C, Grimbacher B, Kroisel PM.

J Neurol Sci. 2011 Oct 15;309(1-2):12-5. doi: 10.1016/j.jns.2011.07.045. Epub 2011 Aug 19.

PMID:
21855090
37.

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V.

Eur J Hum Genet. 2011 Oct;19(10):1038-44. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1.

38.

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C.

Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15.

39.

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PMID:
19687455
40.

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB.

Am J Hum Genet. 2009 Apr;84(4):519-23. doi: 10.1016/j.ajhg.2009.03.007. Epub 2009 Apr 2.

41.

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR.

Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4.

42.

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903.

PMID:
19086034
43.

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M.

Am J Hum Genet. 2008 Nov;83(5):656. No abstract available.

44.

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR.

Neuropediatrics. 2008 Feb;39(1):33-8. doi: 10.1055/s-2008-1077085.

45.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M.

Am J Hum Genet. 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021.

46.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

47.

Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.

Mensah AK, De Luca V, Stachowiak B, Noor A, Windpassinger C, Lam ST, Kennedy JL, Scherer SW, Lo IF, Vincent JB.

Schizophr Res. 2007 Sep;95(1-3):228-35. Epub 2007 Jul 17.

PMID:
17644315
48.

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.

Arch Neurol. 2007 Jul;64(7):966-70.

PMID:
17620486
49.

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.

Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.

Genet Couns. 2007;18(1):9-16.

PMID:
17515297
50.

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.

Schwarzbraun T, Ofner L, Gillessen-Kaesbach G, Schaperdoth B, Preisegger KH, Windpassinger C, Wagner K, Petek E, Kroisel PM.

Am J Med Genet A. 2007 Mar 15;143A(6):619-24. No abstract available.

PMID:
17318840

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