Detalhe da pesquisa
1.
Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
Rev Neurol (Paris)
; 176(3): 170-179, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31521395
2.
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Nat Genet
; 28(4): 365-70, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11479539
3.
[Construction and validation of an evaluation tool of sexual health using self-administered questionnaires for an application to metabolic diseases]. / Mise au point et validation d'un outil d'évaluation de la santé sexuelle sous forme d'auto-questionnaires pour une application aux maladies métaboliques.
Prog Urol
; 23(3): 210-8, 2013 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-23446286
4.
Are children born after infertility treatment at increased risk of retinoblastoma?
Hum Reprod
; 27(7): 2186-92, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22587995
5.
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.
Am J Med Genet A
; 152A(2): 464-71, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101685
6.
Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion.
Am J Med Genet A
; 149A(2): 226-31, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19161154
7.
The natural history of classic galactosemia: lessons from the GalNet registry.
Orphanet J Rare Dis
; 14(1): 86, 2019 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31029175
8.
[Influenza vaccination coverage rate in children with underlying chronic disorders in 7 French pediatric wards]. / Couverture vaccinale vis-à-vis de la grippe chez les enfants de la région parisienne atteints d'une affection de longue durée.
Arch Pediatr
; 13(10): 1287-93, 2006 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-16919920
9.
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
J Med Genet
; 40(6): 431-5, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12807964
10.
[Factors predicting serious bacterial infections in febrile infants less than three months old: multivariate analysis]. / Facteurs prédictifs de la présence d'une infection bactérienne sévère chez les nourrissons fébriles âgés de moins de trois mois: analyse multivariée.
Arch Pediatr
; 12(4): 397-403, 2005 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-15808428
11.
[Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis]. / Cocaïne et trisomie 8 associées au diagnostic prénatal d'agénésie du corps calleux.
J Gynecol Obstet Biol Reprod (Paris)
; 34(8): 803-6, 2005 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-16319772
12.
[Mild hemophilia A fortuitously discovered during Henoch-Schönlein purpura]. / Découverte fortuite d'une hémophilie A mineure à l'occasion d'un purpura rhumatoïde.
Arch Pediatr
; 22(11): 1167-70, 2015 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-26412326
13.
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
Hum Mutat
; 16(5): 444, 2000 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11058903
14.
Unusual cerebral manifestations in hereditary fructose intolerance.
Arch Neurol
; 47(11): 1243-4, 1990 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-2241623
15.
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.
Neurology
; 46(5): 1297-301, 1996 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8628470
16.
Three new cases of the Schinzel-Giedion syndrome and review of the literature.
Am J Med Genet
; 50(1): 90-3, 1994 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-8160760
17.
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.
Am J Med Genet
; 73(2): 144-9, 1997 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-9409864
18.
Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.
Am J Med Genet
; 87(4): 324-8, 1999 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-10588838
19.
CHARGE syndrome: report of 47 cases and review.
Am J Med Genet
; 76(5): 402-9, 1998 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-9556299
20.
Gunn rats: a reproducible experimental model to compare the different methods of measurements of bilirubin serum concentration and to evaluate the risk of bilirubin encephalopathy.
Clin Chim Acta
; 192(1): 29-33, 1990 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-2261694