Detalhe da pesquisa
1.
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
Hum Reprod
; 29(3): 394-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24345578
2.
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
Neurogenetics
; 12(1): 73-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20721593
3.
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
BMC Med Genet
; 10: 51, 2009 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19500388
4.
Mutations in TREM2 lead to pure early-onset dementia without bone cysts.
Hum Mutat
; 29(9): E194-204, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18546367
5.
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
Eur J Med Genet
; 50(5): 367-78, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17719863
6.
[Various topics in population genetics]. / Quelques points de génétique des populations.
Presse Med
; 36 Spec No 1: 1S26-31, 2007 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-17546764
7.
Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.
Genet Test
; 10(4): 252-7, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17253930
8.
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
Eur J Med Genet
; 48(4): 412-20, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16378925
9.
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.
Eur J Hum Genet
; 23(10): 1364-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424710
10.
[Treatment of information on personal health data for research purposes: nobody should ignore the law]. / Traitement de l'information en matière de recherche dans le domaine de la santé: nul n'est censé ignorer la loi!
Med Sci (Paris)
; 25(1): 93-7, 2009 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-19154701
11.
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.
Eur J Hum Genet
; 23(10): 1434, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26376682
12.
Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.
PLoS One
; 4(10): e7676, 2009 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19888326
13.
Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.
Ann Hum Genet
; 72(Pt 1): 41-7, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17711558
14.
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Prenat Diagn
; 28(11): 993-8, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925618
15.
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
Mol Genet Metab
; 84(3): 273-7, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15694177