Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Development of guidelines to facilitate improved support of South Asian carers by primary health care teams.
|
Qual Health Care
|
2001
|
1.72
|
2
|
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
|
Nat Genet
|
1998
|
1.51
|
3
|
Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans.
|
Exp Dermatol
|
1998
|
1.33
|
4
|
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
|
Clin Genet
|
2005
|
1.30
|
5
|
Exposing the human nude phenotype.
|
Nature
|
1999
|
1.26
|
6
|
Knowledge, attitudes and practices regarding tuberculosis in two districts of Punjab, Pakistan.
|
Int J Tuberc Lung Dis
|
2010
|
1.11
|
7
|
Evidence for two different types of insecticidal P2 toxins with dual specificity in Bacillus thuringiensis subspecies.
|
J Bacteriol
|
1989
|
1.09
|
8
|
Blunt abdominal trauma: a prospective study with selective peritoneal lavage.
|
Arch Surg
|
1976
|
1.05
|
9
|
Field structures in family planning.
|
Stud Fam Plann
|
1971
|
1.04
|
10
|
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
|
Clin Genet
|
2002
|
1.04
|
11
|
A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1.
|
Am J Hum Genet
|
1998
|
1.03
|
12
|
The surgical treatment of carcinoma of the colon and rectum: an index of quality care and sociologic and geographic distribution.
|
Ann Surg
|
1976
|
0.99
|
13
|
High-quality plant DNA extraction for PCR: an easy approach.
|
J Appl Genet
|
2009
|
0.99
|
14
|
Molecular basis for the rhino Yurlovo (hr(rhY)) phenotype: severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene.
|
Exp Dermatol
|
1998
|
0.96
|
15
|
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
|
Exp Dermatol
|
1999
|
0.96
|
16
|
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
|
Clin Genet
|
2008
|
0.95
|
17
|
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene.
|
Hum Genet
|
1998
|
0.95
|
18
|
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
|
J Med Genet
|
2006
|
0.93
|
19
|
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.
|
Clin Genet
|
2007
|
0.91
|
20
|
Aposthia: a birth defect or normal quantitative recessive human genetic trait?
|
East Mediterr Health J
|
2007
|
0.91
|
21
|
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
|
Br J Dermatol
|
2012
|
0.91
|
22
|
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.
|
Clin Genet
|
2011
|
0.90
|
23
|
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.
|
Clin Genet
|
2005
|
0.89
|
24
|
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
|
Clin Exp Dermatol
|
2011
|
0.89
|
25
|
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.
|
Br J Dermatol
|
2006
|
0.89
|
26
|
Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
|
Am J Med Genet
|
1998
|
0.88
|
27
|
A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.
|
Clin Exp Dermatol
|
2009
|
0.88
|
28
|
Multiple familial cutaneous glomangioma: a pedigree of 4 generations and critical analysis of histologic and genetic differences of glomus tumors.
|
J Am Acad Dermatol
|
2000
|
0.87
|
29
|
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.
|
Ann Hum Genet
|
2007
|
0.86
|
30
|
A simple method for characterising syndactyly in clinical practice.
|
Genet Couns
|
2005
|
0.86
|
31
|
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.
|
Clin Genet
|
2011
|
0.86
|
32
|
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.
|
Clin Genet
|
2006
|
0.84
|
33
|
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
|
J Med Genet
|
2008
|
0.84
|
34
|
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.
|
Clin Genet
|
2006
|
0.84
|
35
|
Should flexible fiberoptic endoscopy replace barium contrast study of the upper gastrointestinal tract?
|
Surgery
|
1978
|
0.84
|
36
|
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
|
Br J Dermatol
|
2009
|
0.84
|
37
|
Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12.
|
Exp Dermatol
|
2001
|
0.83
|
38
|
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.
|
J Med Genet
|
2004
|
0.83
|
39
|
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
|
Clin Genet
|
2011
|
0.82
|
40
|
A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions.
|
Exp Dermatol
|
2000
|
0.81
|
41
|
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.
|
Br J Dermatol
|
2012
|
0.81
|
42
|
A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
|
Br J Dermatol
|
2007
|
0.81
|
43
|
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families.
|
Br J Dermatol
|
2013
|
0.80
|
44
|
A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia.
|
J Invest Dermatol
|
1999
|
0.80
|
45
|
Tuberculosis of the oesophagus.
|
J Pak Med Assoc
|
1992
|
0.80
|
46
|
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
|
Br J Dermatol
|
2005
|
0.80
|
47
|
A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).
|
Br J Dermatol
|
2008
|
0.80
|
48
|
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
|
Clin Genet
|
2012
|
0.79
|
49
|
The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
|
Clin Genet
|
2006
|
0.79
|
50
|
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).
|
Clin Genet
|
2004
|
0.79
|
51
|
A prospective study of carotid endarterectomy with and without shunt.
|
Am Surg
|
1981
|
0.79
|
52
|
Results of corrective surgery for alkaline reflux gastritis.
|
South Med J
|
1979
|
0.79
|
53
|
Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene.
|
Clin Exp Dermatol
|
2006
|
0.78
|
54
|
Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.
|
Clin Exp Dermatol
|
2007
|
0.78
|
55
|
Mapping of a novel locus for an autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29.
|
Br J Dermatol
|
2010
|
0.78
|
56
|
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.
|
Orthod Craniofac Res
|
2011
|
0.77
|
57
|
Applications of choledochoduodenostomy in biliary tract obstruction.
|
Am Surg
|
1982
|
0.77
|
58
|
Blunt abdominal trauma: a study of the relationship between diagnosis and outcome.
|
Rev Surg
|
1973
|
0.77
|
59
|
Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
|
J Investig Med
|
1999
|
0.77
|
60
|
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
|
Hum Hered
|
2001
|
0.77
|
61
|
Blunt abdominal trauma: a study of relationship between diagnosis and outcome.
|
South Med J
|
1973
|
0.77
|
62
|
A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.
|
Br J Dermatol
|
2008
|
0.77
|
63
|
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
|
Clin Genet
|
2005
|
0.77
|
64
|
A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
|
Clin Exp Dermatol
|
2014
|
0.77
|
65
|
Efficiency of live attenuated and inactivated rabies viruses in prophylactic and post exposure vaccination against the street virus strain.
|
Acta Virol
|
2015
|
0.76
|
66
|
Structure of the human gene for lysosomal di-N-acetylchitobiase.
|
Glycobiology
|
1999
|
0.76
|
67
|
Cymbopogon citratus Protects against the Renal Injury Induced by Toxic Doses of Aminoglycosides in Rabbits.
|
Indian J Pharm Sci
|
2013
|
0.76
|
68
|
The BM2 protein of influenza B virus interacts with p53 and inhibits its transcriptional and apoptotic activities.
|
Mol Cell Biochem
|
2015
|
0.76
|
69
|
Diagnostic transgastric flexible peritoneoscopy: is pure natural orifice transluminal endoscopic surgery a fantasy?
|
Singapore Med J
|
2008
|
0.75
|
70
|
Contraceptive services for Asian women in UK.
|
Fam Pract
|
1990
|
0.75
|
71
|
Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44.
|
Clin Genet
|
2008
|
0.75
|
72
|
Occult diverticulitis, a cause of retroperitoneal fibrosis.
|
Dis Colon Rectum
|
1980
|
0.75
|
73
|
Proceedings: Recurrent duodenal ulcer disease.
|
Arch Surg
|
1974
|
0.75
|
74
|
Interposition mesocaval shunt for bleeding esophageal varices: clinical, hemodynamic, and metabolic changes.
|
South Med J
|
1978
|
0.75
|
75
|
Vaccination requirements and malaria information for travellers.
|
J Pak Med Assoc
|
1987
|
0.75
|
76
|
Leaks and obstruction after gastric resection.
|
Am J Surg
|
1986
|
0.75
|
77
|
A technic for freezing an extremity in preparation for amputation.
|
Am J Surg
|
1978
|
0.75
|
78
|
Management of aortic bypass graft thrombosis: utility of thrombectomy.
|
Am J Surg
|
1978
|
0.75
|
79
|
Carcinoma of the colon and rectum.
|
Curr Probl Surg
|
1973
|
0.75
|
80
|
Freezing an extremity in preparation for amputation.
|
South Med J
|
1978
|
0.75
|
81
|
Cuspal Flexure and Extent of Cure of a Bulk-fill Flowable Base Composite.
|
Oper Dent
|
2015
|
0.75
|
82
|
Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3.
|
Clin Genet
|
2004
|
0.75
|
83
|
Pseudoaneurysms and related complications of aortic bypass grafts.
|
South Med J
|
1980
|
0.75
|
84
|
Duodenal ulcer as a cause of duodenocolic fistula: a case report and review of literature.
|
Am Surg
|
1973
|
0.75
|
85
|
Surgical considerations in the management of hiatal hernia and esophagitis.
|
J Ky Med Assoc
|
1973
|
0.75
|
86
|
Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members.
|
Exp Dermatol
|
2001
|
0.75
|
87
|
A novel deletion mutation in the human hairless (HR) gene in an Iranian family with atrichia and papular lesions.
|
Clin Exp Dermatol
|
2009
|
0.75
|
88
|
A single nocte dose of famotidine in the treatment of duodenal ulcer.
|
J Pak Med Assoc
|
1989
|
0.75
|
89
|
Pyloric ulceration in an intrathoracic stomach: the value of preoperative arteriography.
|
J Ky Med Assoc
|
1977
|
0.75
|
90
|
A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.
|
Br J Dermatol
|
2007
|
0.75
|
91
|
Family planning and social change in Muslim culture.
|
Birthright
|
1971
|
0.75
|
92
|
A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
|
Ann Hum Genet
|
2008
|
0.75
|
93
|
Influence of age on the management of abdominal aortic aneurysm.
|
Am Surg
|
1982
|
0.75
|
94
|
Effect of anticalmodulin drugs on testosterone synthesis in hCG stimulated mouse Leydig cells.
|
J Endocrinol Invest
|
1988
|
0.75
|
95
|
Family Planning -- an indigenous movement.
|
Birthright
|
1972
|
0.75
|
96
|
Descriptions of two new species of chronogaster cobb, 1913 from India.
|
J Nematol
|
1994
|
0.75
|