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About
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