| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
|
Pediatrics
|
1978
|
3.04
|
|
2
|
Linkage heterogeneity of autosomal dominant polycystic kidney disease.
|
N Engl J Med
|
1988
|
2.16
|
|
3
|
Duty to re-contact.
|
Genet Med
|
2001
|
1.80
|
|
4
|
Familial inclusion body myositis: evidence for autosomal dominant inheritance.
|
Neurology
|
1992
|
1.46
|
|
5
|
Pulmonary arteriovenous malformation in the newborn: a familial case.
|
Pediatr Cardiol
|
1993
|
1.35
|
|
6
|
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.
|
Circulation
|
2000
|
1.32
|
|
7
|
Frontonasal dysplasia with coronal craniosynostosis in three sibs.
|
Birth Defects Orig Artic Ser
|
1979
|
1.17
|
|
8
|
Neurofibromatosis type 1 and pregnancy.
|
Am J Med Genet
|
1996
|
1.12
|
|
9
|
Familial amniotic bands.
|
Am J Med Genet
|
1983
|
1.12
|
|
10
|
Human beta-mannosidase deficiency.
|
N Engl J Med
|
1986
|
1.06
|
|
11
|
Neurofibromatosis 2, radiosurgery and malignant nervous system tumours.
|
Br J Cancer
|
2000
|
1.02
|
|
12
|
Trisomy 18 mosaicism in two siblings.
|
Clin Genet
|
1974
|
1.00
|
|
13
|
Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.
|
Am J Hum Genet
|
2000
|
0.96
|
|
14
|
San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease.
|
Am J Med Genet
|
1991
|
0.91
|
|
15
|
Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.
|
Am J Hum Genet
|
1987
|
0.90
|
|
16
|
Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome.
|
Hum Pathol
|
1984
|
0.90
|
|
17
|
Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.
|
Am J Med Genet
|
1993
|
0.89
|
|
18
|
The familial occurrence of Poland syndrome.
|
Birth Defects Orig Artic Ser
|
1977
|
0.86
|
|
19
|
Bone dysplasias of infancy in the Vienna collection.
|
Pediatr Radiol
|
1994
|
0.86
|
|
20
|
Familial pericentric inversion of chromosome 8.
|
Am J Med Genet
|
1981
|
0.85
|
|
21
|
Risk of Down syndrome among second- and third-degree relatives of a proband with trisomy 21.
|
Am J Med Genet
|
1983
|
0.80
|
|
22
|
Reciprocal translocation versus centric fusion between two No. 13 chromosomes. A case of 46,XX,-13,+t(13;13)(p12;q13) and a case of 46,XY,-13,+t(13;13)(p12;p12).
|
Cytogenet Cell Genet
|
1973
|
0.80
|
|
23
|
4p trisomy syndrome: report of 4 additional cases and segregation analysis of 21 families with different translocations.
|
Am J Med Genet
|
1979
|
0.78
|
|
24
|
Ambiguous genitalia in the Russell-Silver syndrome.
|
Am J Dis Child
|
1978
|
0.75
|
|
25
|
Bloom's syndrome.
|
Am J Dis Child
|
1985
|
0.75
|
|
26
|
Application of corium in cardiac surgery.
|
Bull Soc Int Chir
|
1967
|
0.75
|
|
27
|
[Total bypass without thoracotomy with deep hypothermia. Experimental studies].
|
Thoraxchir Vask Chir
|
1967
|
0.75
|
|
28
|
Some problems of extracorporeal circulation with respect to cerebral circulation.
|
J Cardiovasc Surg (Torino)
|
1966
|
0.75
|
|
29
|
Clinical and experimental observations in heart transplantations.
|
Transplant Proc
|
1969
|
0.75
|
|
30
|
Resuscitation and preservation of canine cadaver hearts.
|
Trans Am Soc Artif Intern Organs
|
1968
|
0.75
|
|
31
|
Orthotopic cardiac allotransplants in puppies. Analysis of surgical deaths in 40 cases.
|
N Y State J Med
|
1968
|
0.75
|
|
32
|
An experimental prosthetic myocardium.
|
Trans Am Soc Artif Intern Organs
|
1969
|
0.75
|
|
33
|
Selection of substitute solution for extracorporeal circulation from the standpoint of renal circulation.
|
Bull Soc Int Chir
|
1971
|
0.75
|
|
34
|
Heterogeneity in the trichorhinophalangeal syndromes.
|
Birth Defects Orig Artic Ser
|
1983
|
0.75
|
|
35
|
A dynamic aortic patch as a permanent mechanical auxiliary ventricle: experimental studies.
|
Surgery
|
1969
|
0.75
|