Detalhe da pesquisa
1.
Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.
Clin Genet
; 91(1): 126-130, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030002
2.
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Clin Genet
; 91(4): 576-588, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761913
3.
[Genetic diffuse cystic lung disease in adults]. / Maladies kystiques pulmonaires de l'adulte d'origine génétique.
Rev Mal Respir
; 41(1): 69-88, 2024 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-37951745
4.
Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss.
Mol Hum Reprod
; 19(7): 438-43, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23416372
5.
Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages.
Hum Reprod
; 27(5): 1536-41, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22402207
6.
Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Arch Pediatr
; 29(5S): 5S3-5S7, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36585068
7.
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Clin Genet
; 79(3): 225-35, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950397
8.
Expanding CEP290 mutational spectrum in ciliopathies.
Am J Med Genet A
; 149A(10): 2173-80, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19764032
9.
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Clin Genet
; 84(1): 86-90, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23036093
10.
Lethal form of spinocerebellar ataxia type 7 with early onset in childhood.
Arch Pediatr
; 25(1): 42-44, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29248324
11.
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Hum Mutat
; 28(8): 790-6, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17397038
12.
[The complex phenotype of ARC syndrome: A new case]. / Le phénotype complexe du syndrome ARC : une nouvelle observation.
Arch Pediatr
; 24(2): 131-134, 2017 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-28007512
13.
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Sci Rep
; 7(1): 16783, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29196752
14.
l-folinic acid versus d,l-folinic acid in rescue of high-dose methotrexate therapy in children.
J Natl Cancer Inst
; 84(15): 1190-5, 1992 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-1635087
15.
Enhancement of the herpes simplex virus thymidine kinase/ganciclovir bystander effect and its antitumor efficacy in vivo by pharmacologic manipulation of gap junctions.
Hum Gene Ther
; 9(16): 2385-91, 1998 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-9829537
16.
Neutrophil studies in psoriatics: in vivo migration, phagocytosis and bacterial killing.
J Invest Dermatol
; 79(2): 74-8, 1982 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-7097038
17.
The contractility of fibroblasts in a collagen lattice is reduced by corticosteroids.
J Invest Dermatol
; 82(4): 341-4, 1984 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-6707486
18.
Diaminobenzidine cytochemistry in unfixed human epidermis: a marker for epidermal differentiation and for mitochondria.
J Invest Dermatol
; 78(6): 477-81, 1982 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-6177799
19.
Endogenous peroxidases in normal human dermis: a marker of fibroblast differentiation.
J Invest Dermatol
; 81(1): 75-8, 1983 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-6863983
20.
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Eur J Hum Genet
; 6(4): 308-14, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9781036