PubRank

Kazimierz Kozlowski

Author PubWeight™ 9.40‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Pachydermoperiostosis-critical analysis with report of five unusual cases. Eur J Pediatr 2007 1.01
2 Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet 2007 1.00
3 Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol 2004 0.95
4 A novel form of ischio-vertebral syndrome. Skeletal Radiol 2006 0.90
5 Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet 2011 0.84
6 A new form or a variant of SMD type A4. J Appl Genet 2012 0.82
7 Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A 2012 0.81
8 A variant or a "new" postaxial acrofacial dysostosis syndrome. Eur J Pediatr 2008 0.81
9 Severe neonatal spondylometaphyseal dysplasia in two siblings. Am J Med Genet A 2009 0.80
10 Capital femoral epiphysis and growth plate of the asymptomatic hip joint in unilateral Perthes disease. J Pediatr Orthop B 2003 0.79
11 New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet A 2010 0.76
12 Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association. Nephrol Dial Transplant 2006 0.75
13 Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation. Am J Med Genet A 2003 0.75
14 Severe, atypical form of dyschondrosteosis (report of two cases). Eur J Pediatr 2005 0.75
15 Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other. Am J Med Genet A 2010 0.75
16 A boy with severe craniodiaphyseal dysplasia and apparently normal mother. Am J Med Genet A 2007 0.75
17 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. J Pediatr Orthop B 2008 0.75
18 Expansion of Carraro syndrome or a new disorder? Eur J Pediatr 2009 0.75
19 Tributes. S Afr Med J 2016 0.75