|
1
|
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.
|
Am J Hum Genet
|
1999
|
1.47
|
|
2
|
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
|
Clin Genet
|
2006
|
0.88
|
|
3
|
GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.
|
J Med Genet
|
2008
|
0.84
|
|
4
|
A case of quintuple-X syndrome (49,XXXXX).
|
J Ment Defic Res
|
1970
|
0.83
|
|
5
|
Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.
|
Genet Couns
|
2006
|
0.80
|
|
6
|
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.
|
Genet Couns
|
2005
|
0.79
|
|
7
|
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
|
Eur J Med Genet
|
2007
|
0.79
|
|
8
|
Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation.
|
Clin Genet
|
2006
|
0.77
|
|
9
|
Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.
|
J Appl Genet
|
2010
|
0.76
|
|
10
|
Proteus syndrome: a case with clonal chromosome aberration.
|
Genet Couns
|
2002
|
0.75
|
|
11
|
[Reaction between low density lipoproteins and cultured fibroblasts in a case of familial hypercholesterolemia].
|
Pol Arch Med Wewn
|
1983
|
0.75
|
|
12
|
[Wilms' tumor and Beckwith-Wiedemann syndrome].
|
Pol Przegl Radiol
|
1985
|
0.75
|
|
13
|
[Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods].
|
Pediatr Pol
|
1996
|
0.75
|
|
14
|
[Infantile form of cystinosis].
|
Pediatr Pol
|
1972
|
0.75
|
|
15
|
[Principles of genetics as a prerequisite for genetics counseling].
|
Pediatr Pol
|
1978
|
0.75
|
|
16
|
[The thyroid gland and the adrenal cortex].
|
Endokrynol Pol
|
1967
|
0.75
|
|
17
|
[Preliminary analysis of radiation injuries after radiotherapy of angiomas in children].
|
Przegl Dermatol
|
1980
|
0.75
|
|
18
|
[The metabolism of adipose tissue triglycerides].
|
Postepy Biochem
|
1967
|
0.75
|
|
19
|
[Nezelof's syndrome and multiple abnormalities in a 7-month-old girl].
|
Pediatr Pol
|
1978
|
0.75
|
|
20
|
The influence of vitamin E on rheological parameters in high altitude mountaineers.
|
Int J Vitam Nutr Res
|
1990
|
0.75
|
|
21
|
[Hormonal regulation of sodium balance. A review].
|
Endokrynol Pol
|
1966
|
0.75
|
|
22
|
[Deletion of short arms of chromosome 18 (46, XX, 18 p-) with metabolic disorders].
|
Pediatr Pol
|
1973
|
0.75
|
|
23
|
[Risk of radiation injuries resulting from roentgen therapy of keloid in children].
|
Przegl Dermatol
|
1975
|
0.75
|
|
24
|
[Thin-needle biopsy in the diagnosis of lymphomatous thyroiditis in children].
|
Pol Tyg Lek
|
1982
|
0.75
|
|
25
|
Increase in the incidence of type 1 diabetes mellitus in children in three cities in Poland, 1987-1999.
|
J Pediatr Endocrinol Metab
|
2002
|
0.75
|
|
26
|
[Obesity; metabolic or regulatory disturbance. A review].
|
Endokrynol Pol
|
1967
|
0.75
|
|
27
|
[5-year follow-up of a child with an ophthalmo-cerebro-renal syndrome].
|
Pediatr Pol
|
1972
|
0.75
|
|
28
|
[Polish multicenter study on diabetes type I incidence in he age group 0-14 between 1998 and 1999].
|
Pol Arch Med Wewn
|
2001
|
0.75
|
|
29
|
[Congenitial immunological defects in children].
|
Pediatr Pol
|
1977
|
0.75
|
|
30
|
Fibular aplasia with ectrodactyly--broadening the clinical spectrum.
|
Eur J Med Genet
|
2005
|
0.75
|
|
31
|
[Chronic granulomatous disease in a 10-year-old boy].
|
Pediatr Pol
|
1979
|
0.75
|
|
32
|
[Syndrome of congenital thrombopenia with skeletal malformations].
|
Pediatr Pol
|
1970
|
0.75
|
|
33
|
[Chromosome mosaicism in typical Down's syndrome].
|
Pediatr Pol
|
1977
|
0.75
|
|
34
|
[An analysis of injuries caused by irradiation of keloid with roentgen].
|
Przegl Dermatol
|
1975
|
0.75
|
|
35
|
[How to avoid errors in the diagnosis of galactosemia].
|
Pediatr Pol
|
1976
|
0.75
|