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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459.
Brain. 2021.
PMID: 33764426
Free PMC article.
EVALUATION OF METATARSAL RELATIONSHIPS IN THE BIOMECHANICS OF 332 NORMAL FEET USING THE METHOD OF MEASURING RELATIVE LENGTHS.
Barrôco R, Nery C, Favero G, Mombach R, Nascimento O, Jorge S, Monteiro M, Diedrichs L, Abreu F.
Barrôco R, et al. Among authors: mombach r.
Rev Bras Ortop. 2015 Nov 17;46(4):431-8. doi: 10.1016/S2255-4971(15)30258-5. eCollection 2011 Jul-Aug.
Rev Bras Ortop. 2015.
PMID: 27027034
Free PMC article.
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Clinical characteristics of a sample of patients with cat eye syndrome.
Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA.
Rosa RF, et al. Among authors: mombach r.
Rev Assoc Med Bras (1992). 2010 Jul-Aug;56(4):462-5. doi: 10.1590/s0104-42302010000400021.
Rev Assoc Med Bras (1992). 2010.
PMID: 20835645
Free article.
English, Portuguese.
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Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome.
Paskulin GA, Riegel M, Cotter PD, Kiss A, Rosa RF, Zen PR, Mombach R, Graziadio C.
Paskulin GA, et al. Among authors: mombach r.
Am J Med Genet A. 2009 Jun;149A(6):1302-7. doi: 10.1002/ajmg.a.32888.
Am J Med Genet A. 2009.
PMID: 19449429
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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome.
Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello Rde C, Otto PA, Vianna-Morgante AM.
Mazzeu JF, et al. Among authors: mombach r.
Am J Med Genet A. 2007 Aug 1;143A(15):1790-5. doi: 10.1002/ajmg.a.31661.
Am J Med Genet A. 2007.
PMID: 17603805
No abstract available.
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Passive smoking and nonrecurrent acute otitis media in children.
Lubianca Neto JF, Burns AG, Lu L, Mombach R, Saffer M.
Lubianca Neto JF, et al. Among authors: mombach r.
Otolaryngol Head Neck Surg. 1999 Dec;121(6):805-8.
Otolaryngol Head Neck Surg. 1999.
PMID: 10580242
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