Search details
1.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Hum Mol Genet
; 21(4): 776-83, 2012 Feb 15.
Article
in English
| MEDLINE | ID: mdl-22068589
2.
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Am J Hum Genet
; 89(3): 464-73, 2011 Sep 09.
Article
in English
| MEDLINE | ID: mdl-21907015
3.
Null mutations in LTBP2 cause primary congenital glaucoma.
Am J Hum Genet
; 84(5): 664-71, 2009 May.
Article
in English
| MEDLINE | ID: mdl-19361779
4.
An SCN9A channelopathy causes congenital inability to experience pain.
Nature
; 444(7121): 894-8, 2006 Dec 14.
Article
in English
| MEDLINE | ID: mdl-17167479
5.
Umbilical vein oxytocin for the treatment of retained placenta (Release Study): a double-blind, randomised controlled trial.
Lancet
; 375(9709): 141-7, 2010 Jan 09.
Article
in English
| MEDLINE | ID: mdl-20004013
6.
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Mol Vis
; 16: 1162-8, 2010 Jun 23.
Article
in English
| MEDLINE | ID: mdl-20664696
7.
Iatrogenic vesicovaginal fistula.
J Coll Physicians Surg Pak
; 20(7): 436-8, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20642941
8.
Intrauterine Fetal Blood Transfusion (IUBT) for Rh Incompatibility - 12 Years' Experience from Pakistan.
J Coll Physicians Surg Pak
; 30(11): 1193-1196, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-33222739
9.
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
Eur J Hum Genet
; 14(12): 1306-12, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-16912702
10.
Pakistani mothers' and fathers' experiences and understandings of the diagnosis of Down syndrome for their child.
J Community Genet
; 6(1): 47-53, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25081228
11.
Experiences of parents with a child with Down syndrome in Pakistan and their views on termination of pregnancy.
J Community Genet
; 4(1): 107-14, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23090504
12.
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Cilia
; 1(1): 18, 2012 Oct 01.
Article
in English
| MEDLINE | ID: mdl-23351400
13.
'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan.
Soc Sci Med
; 72(8): 1393-9, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21470731
14.
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
Invest Ophthalmol Vis Sci
; 52(7): 4294-9, 2011 Jun 16.
Article
in English
| MEDLINE | ID: mdl-21474777
15.
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 52(10): 7432-40, 2011 Sep 27.
Article
in English
| MEDLINE | ID: mdl-21862650
16.
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
Arch Ophthalmol
; 128(1): 107-13, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-20065226
Results
1 -
16
de 16
1
Next >
>>