Search details
1.
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
Mol Vis
; 18: 1885-94, 2012.
Article
in English
| MEDLINE | ID: mdl-22876113
2.
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.
BMC Med Genet
; 12: 91, 2011 Jul 04.
Article
in English
| MEDLINE | ID: mdl-21726435
3.
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
Clin Dev Immunol
; 2010: 586342, 2010.
Article
in English
| MEDLINE | ID: mdl-21197407
4.
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
BMC Pediatr
; 10: 82, 2010 Nov 17.
Article
in English
| MEDLINE | ID: mdl-21083904
5.
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.
Am J Med Genet
; 107(1): 43-7, 2002 Jan 01.
Article
in English
| MEDLINE | ID: mdl-11807866
6.
Genetic analysis of patients with the Saethre-Chotzen phenotype.
Am J Med Genet
; 110(2): 136-43, 2002 Jun 15.
Article
in English
| MEDLINE | ID: mdl-12116251
7.
Detecting rearrangements in children using subtelomeric FISH and SKY.
Am J Med Genet
; 107(4): 267-74, 2002 Feb 01.
Article
in English
| MEDLINE | ID: mdl-11840482
8.
Cornelia de Lange syndrome: parental preferences regarding the provision of medical information.
Am J Med Genet A
; 140(20): 2170-9, 2006 Oct 15.
Article
in English
| MEDLINE | ID: mdl-16906566
9.
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia.
Am J Med Genet A
; 137(2): 153-60, 2005 Aug 30.
Article
in English
| MEDLINE | ID: mdl-16059938
10.
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.
Am J Med Genet A
; 129A(1): 73-6, 2004 Aug 15.
Article
in English
| MEDLINE | ID: mdl-15266620
11.
Clinical and genetic aspects of trigonocephaly: a study of 25 cases.
Am J Med Genet A
; 117A(2): 127-35, 2003 Mar 01.
Article
in English
| MEDLINE | ID: mdl-12567409
12.
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Am J Med Genet A
; 128A(1): 39-45, 2004 Jul 01.
Article
in English
| MEDLINE | ID: mdl-15211654
13.
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Ann Neurol
; 51(2): 190-201, 2002 Feb.
Article
in English
| MEDLINE | ID: mdl-11835375
14.
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum?
Am J Med Genet A
; 131(3): 318-9, 2004 Dec 15.
Article
in English
| MEDLINE | ID: mdl-15472996
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