Detalhe da pesquisa
1.
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Blood
; 141(7): 713-724, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279417
2.
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Clin Exp Immunol
; 200(1): 61-72, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799703
3.
Mathematical modeling and simulation in animal health. Part III: Using nonlinear mixed-effects to characterize and quantify variability in drug pharmacokinetics.
J Vet Pharmacol Ther
; 41(2): 171-183, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226975
4.
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Clin Genet
; 91(2): 333-338, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103078
5.
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Clin Genet
; 91(6): 908-912, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27861764
6.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Clin Genet
; 91(1): 92-99, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102954
7.
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Clin Genet
; 92(2): 188-198, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28155230
8.
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.
Br J Dermatol
; 176(1): 204-208, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095246
9.
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Clin Genet
; 89(6): 700-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26757139
10.
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
Clin Genet
; 89(5): e1-4, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26660953
11.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Clin Genet
; 90(6): 509-517, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060890
12.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Clin Genet
; 89(4): 501-506, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497935
13.
Toxicological effects of pet food ingredients on canine bone marrow-derived mesenchymal stem cells and enterocyte-like cells.
J Appl Toxicol
; 36(2): 189-98, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976427
14.
Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
J Eur Acad Dermatol Venereol
; 35(10): e690-e693, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051131
15.
Mathematical modeling and simulation in animal health. Part I: Moving beyond pharmacokinetics.
J Vet Pharmacol Ther
; 39(3): 213-23, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26592724
16.
Mathematical modeling and simulation in animal health - Part II: principles, methods, applications, and value of physiologically based pharmacokinetic modeling in veterinary medicine and food safety assessment.
J Vet Pharmacol Ther
; 39(5): 421-38, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27086878
17.
Pharmacokinetics and pharmacodynamics of gamithromycin in pulmonary epithelial lining fluid in naturally occurring bovine respiratory disease in multisource commingled feedlot cattle.
J Vet Pharmacol Ther
; 39(2): 157-66, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26441021
18.
Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta.
Mol Genet Metab
; 131(1-2): 114-115, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690443
19.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Clin Genet
; 87(3): 244-51, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24635570
20.
Interspecies allometric meta-analysis of the comparative pharmacokinetics of 85 drugs across veterinary and laboratory animal species.
J Vet Pharmacol Ther
; 38(3): 214-26, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333341